Varaico: Literature-Extracted Genetic Variants

Gene:NSMAF
Variant:p.Q9K

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
1 paper
NM_003580.4
p.Q9K
c.25C>A
Surrounding Variants
1 paper
NM_003580.4
p.R5R
c.15G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."