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.I840T

c.2519T>C

Surrounding Variants

1 paper

NM_004672.5

p.G845fs

c.2533_2534fs

4 papers

NM_004672.5

p.P848delFs

c.2544delG

2 papers

NM_004672.5

p.F849fs

c.2545_2546fs

1 paper

NM_004672.5

p.G853fs

c.2557_2558fs

1 paper

NM_004672.5

p.G853delFs

c.2559delC

1 paper

NM_004672.5

p.M859V

c.2575A>G

1 paper

NM_004672.5

p.Q861_V862Splc

c.2583+2T>A

1 paper

NM_004672.5

p.E817K

c.2449G>A

1 paper

NM_004672.5

p.L811V

c.2431C>G

1 paper

NM_004672.5

p.G809E

c.2426G>A

4 papers

NM_004672.5

p.P869T

c.2605C>A

1 paper

NM_004672.5

p.R885Q

c.2654G>A