Varaico: Literature-Extracted Genetic Variants

Gene:SMIM1
Variant:p.C77S

SMIM1

51 papers

RefSeq Summary

This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternativ...

Pfam Domains

DUF4731aa 3–77UCSCDomain of unknown function (DUF4731)

Gene Aliases

HGNC Name

small integral membrane protein 1

HGNC Alias Symbol

Vel

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001288583.2
p.C77S
c.230G>C
Surrounding Variants
2 papers
NM_001288583.2
p.C77S
c.229T>A
1 paper
NM_001288583.2
p.Y68_Y72delFs
c.204_214del11
1 paper
NM_001288583.2
p.L66P
c.197T>C
1 paper
NM_001288583.2
p.A58V
c.173C>T
1 paper
NM_001288583.2
p.V57M
c.169G>A
1 paper
NM_001288583.2
p.G56S
c.166G>A
2 papers
NM_001288583.2
p.L54P
c.161T>C
6 papers
NM_001288583.2
p.M51K
c.152T>A
6 papers
NM_001288583.2
p.M51R
c.152T>G
1 paper
NM_001288583.2
p.A50A
c.150C>A
1 paper
NM_001288583.2
p.R37S
c.111G>T
1 paper
NM_001288583.2
p.R37S
c.111G>C
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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."