Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.Q159*

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
3 papers
NM_017849.4
p.Q159*
c.475C>T
Surrounding Variants
3 papers
NM_017849.4
p.Q157*
c.469C>T
1 paper
NM_017849.4
p.A156fs
c.466_467fs
6 papers
NM_017849.4
p.Q160_H161del1
c.480_482delTGC
4 papers
NM_017849.4
p.Q160_H161del2
c.478_482del6
1 paper
NM_017849.4
p.L155_A156insFs
c.465_466ins5
1 paper
NM_017849.4
p.L155L
c.465G>A
5 papers
NM_017849.4
p.L155*
c.464T>A
2 papers
NM_017849.4
p.I154M
c.462C>G
1 paper
NM_017849.4
p.I154F
c.460A>T
1 paper
NM_017849.4
p.L153H
c.458T>A
2 papers
NM_017849.4
p.Y164*
c.492C>G
2 papers
NM_017849.4
p.Y164*
c.492C>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."