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

1–12 of 55 variants

3 papers

NM_003580.4

p.V859I

c.2575G>A

2 papers

NM_003580.4

p.R241C

c.721C>T

2 papers

NM_003580.4

p.R574*

c.1720C>T

2 papers

NM_003580.4

p.T709M

c.2126C>T

1 paper

NM_003580.4

p.R5R

c.15G>T

1 paper

NM_003580.4

p.Q9K

c.25C>A

1 paper

NM_003580.4

p.E66D

c.198A>T

1 paper

NM_003580.4

p.N91K

c.273T>G

1 paper

NM_003580.4

p.N91K

c.273T>A

1 paper

NM_003580.4

p.A93A

c.279C>G

1 paper

NM_003580.4

p.R95K

c.284G>A

1 paper

NM_003580.4

p.S110T

c.329G>C