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

9 papers

NM_004672.5

p.N622K

c.1866C>G

Surrounding Variants

9 papers

NM_004672.5

p.N622K

c.1866C>A

1 paper

NM_004672.5

p.T621M

c.1862C>T

4 papers

NM_004672.5

p.G614G

c.1842C>A

1 paper

NM_004672.5

p.E640_F641Splc

c.1920+3G>A

1 paper

NM_004672.5

p.V653G

c.1958T>G

1 paper

NM_004672.5

p.C602R

c.1804T>C

1 paper

NM_004672.5

p.D598N

c.1792G>A

2 papers

NM_004672.5

p.Y591C

c.1772A>G

1 paper

NM_004672.5

p.A580T

c.1738G>A

1 paper

NM_004672.5

p.S579Splc

c.1736+1G>T

1 paper

NM_004672.5

p.G577E

c.1730G>A

1 paper

NM_004672.5

p.A573V

c.1718C>T