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.H691Q

c.2073T>G

Surrounding Variants

1 paper

NM_004672.5

p.H691Q

c.2073T>A

1 paper

NM_004672.5

p.E693Q

c.2077G>C

1 paper

NM_004672.5

p.R707P

c.2120G>C

1 paper

NM_004672.5

p.S711*

c.2132C>G

1 paper

NM_004672.5

p.S711*

c.2132C>A

1 paper

NM_004672.5

p.F721L

c.2161T>C

1 paper

NM_004672.5

p.F721Y

c.2162T>A

1 paper

NM_004672.5

p.F721L

c.2163C>G

1 paper

NM_004672.5

p.F721L

c.2163C>A

1 paper

NM_004672.5

p.G728C

c.2182G>T

1 paper

NM_004672.5

p.G728C

c.2182G>T

1 paper

NM_004672.5

p.L730P

c.2189T>C