Varaico: Literature-Extracted Genetic Variants

MAP3K15

101 papers

RefSeq Summary

The protein encoded by this gene is a member of the mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MA...

Pfam Domains

DRHyd-ASKaa 86–121UCSCDeoxyribohydrolase (DRHyd) domain of the ASK signalosome

MAP3K_TRAF_bdaa 136–515UCSCMAP3K TRAFs-binding domain

ASK_PHaa 525–624UCSCASK kinase PH domain

Pkinaseaa 654–908UCSCProtein kinase domain

HisK-N-likeaa 1003–1134UCSCHisK-N-like globin domain of the ASK signalosome

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase 15

HGNC Alias Symbols

bA723P2.3; FLJ16518; ASK3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001001671.4

p.Y645*

c.1935T>A

Surrounding Variants

2 papers

NM_001001671.4

p.Y645*

c.1935T>G

1 paper

NM_001001671.4

p.A651S

c.1951G>T

1 paper

NM_001001671.4

p.A651G

c.1952C>G

1 paper

NM_001001671.4

p.Y663*

c.1989T>G

1 paper

NM_001001671.4

p.Y663*

c.1989T>A

1 paper

NM_001001671.4

p.G664A

c.1991G>C

1 paper

NM_001001671.4

p.R677*

c.2029C>T

1 paper

NM_001001671.4

p.P684L

c.2051C>T

1 paper

NM_001001671.4

p.T642I

c.1925C>T

1 paper

NM_001001671.4

p.T638I

c.1913C>T

1 paper

NM_001001671.4

p.S630delins

c.1888_1889delinsGC

1 paper

NM_001001671.4

p.R689Splc

c.2067-1G>C