Varaico: Literature-Extracted Genetic Variants

Gene:STOM
Variant:p.E243E

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.E243E
c.729A>G
Surrounding Variants
1 paper
NM_004099.6
p.T242I
c.725C>T
1 paper
NM_004099.6
p.P245A
c.733C>G
1 paper
NM_004099.6
p.A237P
c.709G>C
1 paper
NM_004099.6
p.R251Q
c.752G>A
1 paper
NM_004099.6
p.Q254*
c.760C>T
1 paper
NM_004099.6
p.R232S
c.696G>T
1 paper
NM_004099.6
p.R232S
c.696G>C
1 paper
NM_004099.6
p.P270A
c.808C>G
2 papers
NM_004099.6
p.M275T
c.824T>C
1 paper
NM_004099.6
p.I280T
c.839T>C
1 paper
NM_004099.6
p.E216K
c.646G>A
1 paper
NM_004099.6
p.A208T
c.622G>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."