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

1 paper

NM_004672.5

p.R499C

c.1495C>T

Surrounding Variants

1 paper

NM_004672.5

p.R499H

c.1496G>A

1 paper

NM_004672.5

p.H506Y

c.1516C>T

1 paper

NM_004672.5

p.F507V

c.1519T>G

1 paper

NM_004672.5

p.T490M

c.1469C>T

1 paper

NM_004672.5

p.M478I

c.1434G>T

1 paper

NM_004672.5

p.M478I

c.1434G>C

1 paper

NM_004672.5

p.M478I

c.1434G>A

1 paper

NM_004672.5

p.K534E

c.1600A>G

2 papers

NM_004672.5

p.L541P

c.1622T>C

1 paper

NM_004672.5

p.Q562K

c.1684C>A

1 paper

NM_004672.5

p.N468K

c.1404T>G

1 paper

NM_004672.5

p.N468K

c.1404T>A