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.I177N

c.530T>A

Surrounding Variants

1 paper

NM_004672.5

p.T175R

c.524C>G

1 paper

NM_004672.5

p.T175K

c.524C>A

1 paper

NM_004672.5

p.A183G

c.548C>G

1 paper

NM_004672.5

p.T184A

c.550A>G

1 paper

NM_004672.5

p.R186P

c.557G>C

1 paper

NM_004672.5

p.R196W

c.586C>T

5 papers

NM_004672.5

p.D200Y

c.598G>T

5 papers

NM_004672.5

p.V207G

c.620T>G

1 paper

NM_004672.5

p.R219W

c.655C>T

1 paper

NM_004672.5

p.R219delFs

c.657delC

1 paper

NM_004672.5

p.R236W

c.706C>T

2 papers

NM_004672.5

p.R241W

c.721C>T