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.Q1251E

c.3751C>G

Surrounding Variants

1 paper

NM_001001671.4

p.W1247*

c.3741G>A

1 paper

NM_001001671.4

p.W1247*

c.3740G>A

1 paper

NM_001001671.4

p.Y1236*

c.3708C>G

1 paper

NM_001001671.4

p.Y1236*

c.3708C>A

1 paper

NM_001001671.4

p.P1232A

c.3694C>G

1 paper

NM_001001671.4

p.T1229delFs

c.3686_3687delTG

1 paper

NM_001001671.4

p.R1281I

c.3842G>T

1 paper

NM_001001671.4

p.R1284*

c.3850C>T

1 paper

NM_001001671.4

p.R1286Splc

c.3857+4A>G

1 paper

NM_001001671.4

p.T1309fs

c.3925_3926fs

1 paper

NM_001001671.4

p.D1311fs

c.3931_3932fs

1 paper

NM_001001671.4

p.L1216F

c.3648G>T