Varaico: Literature-Extracted Genetic Variants

Gene:STOM
Variant:p.F101S

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
2 papers
NM_004099.6
p.F101S
c.302T>C
Surrounding Variants
1 paper
NM_004099.6
p.I99F
c.295A>T
1 paper
NM_004099.6
p.K93N
c.279A>T
1 paper
NM_004099.6
p.K93N
c.279A>C
1 paper
NM_004099.6
p.D89A
c.266A>C
1 paper
NM_004099.6
p.C87S
c.260G>C
1 paper
NM_004099.6
p.C87S
c.259T>A
1 paper
NM_004099.6
p.L85V
c.253C>G
1 paper
NM_004099.6
p.G80Splc
c.239-31T>C
1 paper
NM_004099.6
p.G80Splc
c.238+103G>T
1 paper
NM_004099.6
p.G80Splc
c.238+86C>T
1 paper
NM_004099.6
p.R70L
c.209G>T
1 paper
NM_004099.6
p.R70H
c.209G>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."