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

Selected Variant

6 papers

NM_004672.5

p.G419Splc

c.1256-2A>G

Surrounding Variants

1 paper

NM_004672.5

p.L422P

c.1265T>C

1 paper

NM_004672.5

p.V432M

c.1294G>A

1 paper

NM_004672.5

p.F443insFs

c.1328dupT

4 papers

NM_004672.5

p.A447V

c.1340C>T

2 papers

NM_004672.5

p.A451T

c.1351G>A

11 papers

NM_004672.5

p.T455I

c.1364C>T

1 paper

NM_004672.5

p.V457V

c.1371G>T

1 paper

NM_004672.5

p.A460A

c.1380T>A

1 paper

NM_004672.5

p.N468K

c.1404T>G

1 paper

NM_004672.5

p.N468K

c.1404T>A

1 paper

NM_004672.5

p.M478I

c.1434G>T

1 paper

NM_004672.5

p.M478I

c.1434G>C