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.P1161A

c.3481C>G

Surrounding Variants

1 paper

NM_004672.5

p.E1156K

c.3466G>A

1 paper

NM_004672.5

p.V1153L

c.3457G>T

1 paper

NM_004672.5

p.V1153L

c.3457G>C

1 paper

NM_004672.5

p.S1149I

c.3446G>T

1 paper

NM_004672.5

p.T1173N

c.3518C>A

1 paper

NM_004672.5

p.Q1142R

c.3425A>G

1 paper

NM_004672.5

p.P1130L

c.3389C>T

5 papers

NM_004672.5

p.K1125del1

c.3373_3374delCTT

1 paper

NM_004672.5

p.R1175W

c.3523C>T

1 paper

NM_004672.5

p.I1179M

c.3537C>G

1 paper

NM_004672.5

p.A1181E

c.3542C>A

1 paper

NM_004672.5

p.R1185R

c.3555G>A