Varaico: Literature-Extracted Genetic Variants

Gene:TMEM72
Variant:p.G124S

TMEM72

24 papers

RefSeq Summary

This gene encodes a transmembrane protein which may be expressed specifically in the kidney. [provided by RefSeq, Sep 2016].

Pfam Domains

TMEM72aa 2–137UCSCTransmembrane protein family 72
TMEM72aa 2–137UCSCTransmembrane protein family 72

Gene Aliases

HGNC Name

transmembrane protein 72

HGNC Previous Symbol

C10orf127

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001123376.3
p.G124S
c.370G>A
Surrounding Variants
1 paper
NM_001123376.3
p.S118S
c.354C>T
1 paper
NM_001123376.3
p.L130L
c.390G>T
1 paper
NM_001123376.3
p.S131S
c.393C>T
2 papers
NM_001123376.3
p.R133Q
c.398G>A
1 paper
NM_001123376.3
p.K135K
c.405G>A
1 paper
NM_001123376.3
p.E147K
c.439G>A
1 paper
NM_001123376.3
p.Q148*
c.442C>T
2 papers
NM_001123376.3
p.T160T
c.480C>T
1 paper
NM_001123376.3
p.L175V
c.523C>G
1 paper
NM_001123376.3
p.E177*
c.529G>T
1 paper
NM_001123376.3
p.S181F
c.542C>T
1 paper
NM_001123376.3
p.P196H
c.587C>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."