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.Q941K

c.2821C>A

Surrounding Variants

11 papers

NM_004672.5

p.P946L

c.2837C>T

1 paper

NM_004672.5

p.Q949K

c.2845C>A

1 paper

NM_004672.5

p.Q949R

c.2846A>G

1 paper

NM_004672.5

p.A930T

c.2788G>A

1 paper

NM_004672.5

p.P956S

c.2866C>T

6 papers

NM_004672.5

p.P958T

c.2872C>A

1 paper

NM_004672.5

p.Y965fs

c.2893_2894fs

1 paper

NM_004672.5

p.T968P

c.2902A>C

1 paper

NM_004672.5

p.T968I

c.2903C>T

1 paper

NM_004672.5

p.S969N

c.2906G>A

1 paper

NM_004672.5

p.L971I

c.2911C>A

1 paper

NM_004672.5

p.D926Splc

c.2776+15C>T