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

1 paper

NM_003580.4

p.I688V

c.2062A>G

Surrounding Variants

1 paper

NM_003580.4

p.S676L

c.2027C>T

1 paper

NM_003580.4

p.S700P

c.2098T>C

2 papers

NM_003580.4

p.T709M

c.2126C>T

1 paper

NM_001144772.1

p.G743R

c.2227G>C

1 paper

NM_001144772.1

p.G743R

c.2227G>A

1 paper

NM_003580.4

p.D651Y

c.1951G>T

1 paper

NM_003580.4

p.S740F

c.2219C>T

1 paper

NM_003580.4

p.V808E

c.2423T>A

1 paper

NM_003580.4

p.L839H

c.2516T>A

1 paper

NM_003580.4

p.D651Y

c.1951G>T

1 paper

NM_003580.4

p.R640L

c.1919G>T

1 paper

NM_003580.4

p.R640H

c.1919G>A