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.P850L

c.2549C>T

Surrounding Variants

1 paper

NM_001001671.4

p.P857Q

c.2570C>A

1 paper

NM_001001671.4

p.I842T

c.2525T>C

1 paper

NM_001001671.4

p.A860fs

c.2578_2579fs

2 papers

NM_001001671.4

p.G838S

c.2512G>A

1 paper

NM_001001671.4

p.R826H

c.2477G>A

1 paper

NM_001001671.4

p.R882*

c.2644C>T

1 paper

NM_001001671.4

p.S887F

c.2660C>T

1 paper

NM_001001671.4

p.P893H

c.2678C>A

1 paper

NM_001001671.4

p.K913fs

c.2737_2738fs

1 paper

NM_001001671.4

p.P940L

c.2819C>T

1 paper

NM_001001671.4

p.S946delFs

c.2836delT

1 paper

NM_001001671.4

p.S946fs

c.2836_2837fs