Varaico: Literature-Extracted Genetic Variants

MAP3K1

899 papers

RefSeq Summary

The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded...

Pfam Domains

SWIMaa 338–366UCSCSWIM zinc finger

TOG_MAP3K1aa 552–812UCSCMitogen-activated protein kinase kinase kinase 1, TOG domain

Pkinaseaa 1243–1508UCSCProtein kinase domain

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase 1

HGNC Previous Symbol

MEKK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005921.2

p.Y820H

c.2458T>C

Surrounding Variants

1 paper

NM_005921.2

p.I819V

c.2455A>G

1 paper

NM_005921.2

p.S823C

c.2468C>G

1 paper

NM_005921.2

p.S816F

c.2447C>T

1 paper

NM_005921.2

p.S816_R817del2

c.2446_2450del6

1 paper

NM_005921.2

p.R825G

c.2473A>G

1 paper

NM_005921.2

p.R825*

c.2473A>T

1 paper

NM_005921.2

p.R825K

c.2474G>A

2 papers

NM_005921.2

p.K814R

c.2441A>G

1 paper

NM_005921.2

p.K814fs

c.2440_2441fs

1 paper

NM_005921.2

p.V827_V830delFs

c.2479_2488del10

1 paper

NM_005921.2

p.M826I

c.2478G>A

1 paper

NM_005921.2

p.M826I

c.2478G>C