Varaico: Literature-Extracted Genetic Variants

Gene:STOM
Variant:p.Q175L

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.Q175L
c.524A>T
Surrounding Variants
1 paper
NM_004099.6
p.Q162H
c.486G>T
1 paper
NM_004099.6
p.Q162_I163insFs
c.486_487insA
1 paper
NM_004099.6
p.S161A
c.481T>G
1 paper
NM_004099.6
p.T157S
c.470C>G
1 paper
NM_004099.6
p.T157S
c.469A>T
1 paper
NM_004099.6
p.G156_T157insFs
c.468_469insT
2 papers
NM_004099.6
p.G156insFs
c.467_468insT
1 paper
NM_004099.6
p.V154A
c.461T>C
1 paper
NM_004099.6
p.Q148H
c.444A>T
1 paper
NM_004099.6
p.Q148H
c.444A>C
1 paper
NM_004099.6
p.Q175_S176Splc
c.525+110T>A
1 paper
NM_004099.6
p.L109L
c.327C>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."