CIViC Compass
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MAP2K1

CIViC ID: 31 · Entrez: 5604

Aliases: CFC3,MAPKK1,MEK1,MKK1,PRKMK1,MAP2K1,MEL

Description

MAP2K1 is a dual-specificity kinase known for it's involvement in the ERK pathway by activation of ERK1 and ERK2. MAP2K1 activating mutations have been observed in a number of cancers including ovarian, melanoma and lung. These activating mutations are generally found in the N-terminal negative regulatory region or the ATP-binding region of the N-terminal lobe. Inhibitors of MEK genes have been shown to inhibit tumor growth in these cases.

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Variants (5)

CIViC IDNameHGVSType(s)
627C121S
CYS121SER
ENST00000307102.5:c.362G>C,NC_000015.9:g.66729154G>C,NM_002755.3:c.362G>C,NP_002746.1:p.Cys121Sermissense_variant
1272K57N
LYS57ASN,RS869025608
NM_002755.3:c.171G>T,NP_002746.1:p.Lys57Asn,NG_008305.1:g.53245G>T,NC_000015.9:g.66727455G>T,ENST00000307102.5:c.171G>Tmissense_variant
82P124S
PRO124SER
ENST00000307102.5:c.370C>T,NC_000015.9:g.66729162C>T,NM_002755.3:c.370C>T,NP_002746.1:p.Pro124Sermissense_variant
83Q56P
GLN56PRO,RS1057519729
ENST00000307102.5:c.167A>C,NC_000015.9:g.66727451A>C,NM_002755.3:c.167A>C,NP_002746.1:p.Gln56Promissense_variant
655Q56_V60delENST00000307102.5:c.165_179del,NC_000015.9:g.66727449_66727463delinframe_deletion