Varaico: Literature-Extracted Genetic Variants

NSMAF

46 papers

RefSeq Summary

This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of ...

Pfam Domains

PH_FANaa 1–168UCSCFAN protein N-terminal PH domain

GRAMaa 176–294UCSCGRAM domain

Beachaa 303–575UCSCBeige/BEACH domain

WD40aa 620–658UCSCWD domain, G-beta repeat

WD40aa 704–740UCSCWD domain, G-beta repeat

WD40aa 754–791UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

neutral sphingomyelinase activation associated factor

HGNC Alias Symbol

GRAMD5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003580.4

p.R241C

c.721C>T

Surrounding Variants

1 paper

NM_003580.4

p.Q238insFs

c.712dupC

1 paper

NM_003580.4

p.Q238fs

c.712_713fs

1 paper

NM_003580.4

p.R247delFs

c.739delT

1 paper

NM_003580.4

p.Y284C

c.851A>G

1 paper

NM_003580.4

p.D349E

c.1047T>G

1 paper

NM_003580.4

p.D349E

c.1047T>A

1 paper

NM_003580.4

p.L371V

c.1111C>G

1 paper

NM_003580.4

p.P384S

c.1150C>T

1 paper

NM_003580.4

p.L402V

c.1204C>G

1 paper

NM_003580.4

p.C412delFs

c.1234delA

1 paper

NM_003580.4

p.S427Splc

c.1281-1G>A

1 paper

NM_003580.4

p.N434K

c.1302C>G