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

1 paper

NM_001001671.4

p.Q344H

c.1032G>C

Surrounding Variants

1 paper

NM_001001671.4

p.Q344H

c.1032G>T

1 paper

NM_001001671.4

p.Q348E

c.1042C>G

1 paper

NM_001001671.4

p.Q348P

c.1043A>C

1 paper

NM_001001671.4

p.R339R

c.1017T>A

1 paper

NM_001001671.4

p.G357fs

c.1069_1070fs

1 paper

NM_001001671.4

p.I367L

c.1099A>C

1 paper

NM_001001671.4

p.S375fs

c.1123_1124fs

1 paper

NM_001001671.4

p.D380G

c.1139A>G

1 paper

NM_001001671.4

p.T381T

c.1143C>A

1 paper

NM_001001671.4

p.L400V

c.1198C>G

1 paper

NM_001001671.4

p.E418*

c.1252G>T

1 paper

NM_001001671.4

p.V428A

c.1283T>C