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.A1068G

c.3203C>G

Surrounding Variants

1 paper

NM_001001671.4

p.D1077Y

c.3229G>T

1 paper

NM_001001671.4

p.D1057N

c.3169G>A

1 paper

NM_001001671.4

p.F1080fs

c.3238_3239fs

1 paper

NM_001001671.4

p.Q1087*

c.3259C>T

1 paper

NM_001001671.4

p.V1091G

c.3272T>G

1 paper

NM_001001671.4

p.A1098V

c.3293C>T

1 paper

NM_001001671.4

p.A1098_V1099Splc

c.3294+1G>T

1 paper

NM_001001671.4

p.A1098_V1099Splc

c.3294+7G>T

1 paper

NM_001001671.4

p.N1100K

c.3300T>G

1 paper

NM_001001671.4

p.N1100K

c.3300T>A

1 paper

NM_001001671.4

p.R1104K

c.3311G>A

2 papers

NM_001001671.4

p.R1122*

c.3364C>T