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.N1029H

c.3085A>C

Surrounding Variants

1 paper

NM_001001671.4

p.R1012H

c.3035G>A

1 paper

NM_001001671.4

p.E1010*

c.3028G>T

1 paper

NM_001001671.4

p.H975insFs

c.2925dupC

1 paper

NM_001001671.4

p.Q958H

c.2874G>T

1 paper

NM_001001671.4

p.Q958H

c.2874G>C

1 paper

NM_001001671.4

p.S946fs

c.2836_2837fs

1 paper

NM_001001671.4

p.S946delFs

c.2836delT

1 paper

NM_001001671.4

p.P940L

c.2819C>T

1 paper

NM_001001671.4

p.D1057N

c.3169G>A

1 paper

NM_001001671.4

p.A1068G

c.3203C>G

1 paper

NM_001001671.4

p.D1077Y

c.3229G>T

1 paper

NM_001001671.4

p.F1080fs

c.3238_3239fs