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.L893fs

c.2677_2678fs

Surrounding Variants

1 paper

NM_004672.5

p.L893insFs

c.2678dupT

1 paper

NM_004672.5

p.A895V

c.2684C>T

2 papers

NM_004672.5

p.E888K

c.2662G>A

1 paper

NM_004672.5

p.F887delFs

c.2661delA

1 paper

NM_004672.5

p.F887fs

c.2659_2660fs

1 paper

NM_004672.5

p.L901insFs

c.2702dupT

1 paper

NM_004672.5

p.L901fs

c.2701_2702fs

1 paper

NM_004672.5

p.R885Q

c.2654G>A

1 paper

NM_004672.5

p.R913H

c.2738G>A

4 papers

NM_004672.5

p.P869T

c.2605C>A

1 paper

NM_004672.5

p.P918insFs

c.2753dupC

1 paper

NM_004672.5

p.R919fs

c.2755_2756fs