Varaico: Literature-Extracted Genetic Variants

Gene:STOM

STOM

74 papers

RefSeq Summary

This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate...

Pfam Domains

Band_7aa 55–228UCSCSPFH domain / Band 7 family

Gene Aliases

HGNC Name

stomatin

HGNC Previous Symbols

EPB7; EPB72

Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
5 papers
NM_004099.6
p.G31A
c.92G>C
3 papers
NM_004099.6
p.P47S
c.139C>T
2 papers
NM_004099.6
p.E3_K4insFs
c.9_10insA
2 papers
NM_004099.6
p.F101S
c.302T>C
2 papers
NM_004099.6
p.G156insFs
c.467_468insT
2 papers
NM_004099.6
p.M275T
c.824T>C
1 paper
NM_004099.6
p.E3*
c.7G>T
1 paper
NM_004099.6
p.H6Y
c.16C>T
1 paper
NM_004099.6
p.C30S
c.88T>A
1 paper
NM_004099.6
p.C30S
c.89G>C
1 paper
NM_004099.6
p.I33F
c.97A>T
1 paper
NM_004099.6
p.L34L
c.102G>A
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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."