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

1–12 of 1894 variants

39 papers

NM_005921.2

p.S939C

c.2816C>G

30 papers

NM_005921.2

p.D806N

c.2416G>A

25 papers

NM_005921.2

p.T943_T944del1

c.2828_2830delCAA

19 papers

NM_005921.2

p.V906I

c.2716G>A

17 papers

NM_005921.2

p.Q237R

c.710A>G

17 papers

NM_005921.2

p.G616R

c.1846G>A

17 papers

NM_005921.2

p.G616R

c.1846G>C

14 papers

NM_005921.2

p.L189R

c.566T>G

12 papers

NM_005921.2

p.L78P

c.233T>C

12 papers

NM_005921.2

p.N255S

c.764A>G

11 papers

NM_005921.2

p.V211_V212Splc

c.634-8T>A

11 papers

NM_005921.2

p.R306H

c.917G>A