Varaico: Literature-Extracted Genetic Variants

MAP3K6

158 papers

RefSeq Summary

This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endoth...

Pfam Domains

DRHyd-ASKaa 74–114UCSCDeoxyribohydrolase (DRHyd) domain of the ASK signalosome

MAP3K_TRAF_bdaa 129–507UCSCMAP3K TRAFs-binding domain

ASK_PHaa 521–620UCSCASK kinase PH domain

Pkinaseaa 649–906UCSCProtein kinase domain

HisK-N-likeaa 992–1122UCSCHisK-N-like globin domain of the ASK signalosome

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase 6

HGNC Alias Symbols

MAPKKK6; ASK2; MEKK6

Papers

RefSeq ID

Protein change

DNA change

1–12 of 195 variants

11 papers

NM_004672.5

p.T455I

c.1364C>T

11 papers

NM_004672.5

p.P946L

c.2837C>T

9 papers

NM_004672.5

p.N622K

c.1866C>G

9 papers

NM_004672.5

p.N622K

c.1866C>A

6 papers

NM_004672.5

p.G419Splc

c.1256-2A>G

6 papers

NM_004672.5

p.P958T

c.2872C>A

5 papers

NM_004672.5

p.D200Y

c.598G>T

5 papers

NM_004672.5

p.V207G

c.620T>G

5 papers

NM_004672.5

p.K1125del1

c.3373_3374delCTT

4 papers

NM_004672.5

p.A447V

c.1340C>T

4 papers

NM_004672.5

p.G614G

c.1842C>A

4 papers

NM_004672.5

p.P848delFs

c.2544delG