Varaico: Literature-Extracted Genetic Variants

Gene:STOM
Variant:p.I33F

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
Selected Variant
1 paper
NM_004099.6
p.I33F
c.97A>T
Surrounding Variants
5 papers
NM_004099.6
p.G31A
c.92G>C
1 paper
NM_004099.6
p.L34L
c.102G>A
1 paper
NM_004099.6
p.C30S
c.89G>C
1 paper
NM_004099.6
p.C30S
c.88T>A
1 paper
NM_004099.6
p.F41Y
c.122T>A
3 papers
NM_004099.6
p.P47S
c.139C>T
1 paper
NM_004099.6
p.P47R
c.140C>G
1 paper
NM_004099.6
p.C53S
c.157T>A
1 paper
NM_004099.6
p.C53S
c.158G>C
1 paper
NM_004099.6
p.K58E
c.172A>G
1 paper
NM_004099.6
p.R62K
c.185G>A
1 paper
NM_004099.6
p.R70L
c.209G>T
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