Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.H133R

TMEM127

217 papers

RefSeq Summary

This gene encodes a transmembrane protein with four predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures,...

Pfam Domains

TMEM127aa 1–112UCSCTransmembrane protein 127

Gene Aliases

HGNC Name

transmembrane protein 127

HGNC Alias Symbols

FLJ20507; FLJ22257

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017849.4
p.H133R
c.398A>G
Surrounding Variants
1 paper
NM_017849.4
p.H133Y
c.397C>T
5 papers
NM_017849.4
p.A132T
c.394G>A
1 paper
NM_017849.4
p.T136M
c.407C>T
1 paper
NM_017849.4
p.T136K
c.407C>A
1 paper
NM_017849.4
p.Y129insFs
c.386dupA
1 paper
NM_017849.4
p.V137Splc
c.409+1G>T
1 paper
NM_017849.4
p.R128H
c.383G>A
1 paper
NM_017849.4
p.R127H
c.380G>A
2 papers
NM_017849.4
p.V137Splc
c.409+7C>T
1 paper
NM_017849.4
p.R127C
c.379C>T
2 papers
NM_017849.4
p.T126I
c.377C>T
8 papers
NM_017849.4
p.G117_H120del4
c.349_359del12
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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."