Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.Y164*

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
2 papers
NM_017849.4
p.Y164*
c.492C>G
Surrounding Variants
2 papers
NM_017849.4
p.Y164*
c.492C>A
1 paper
NM_017849.4
p.H165R
c.494A>G
4 papers
NM_017849.4
p.Q160_H161del2
c.478_482del6
6 papers
NM_017849.4
p.Q160_H161del1
c.480_482delTGC
1 paper
NM_017849.4
p.Q168*
c.502C>T
3 papers
NM_017849.4
p.Q159*
c.475C>T
1 paper
NM_017849.4
p.V171L
c.511G>C
1 paper
NM_017849.4
p.V171fs
c.511_512fs
1 paper
NM_017849.4
p.V171Fs
c.512delinsGCCFs
3 papers
NM_017849.4
p.Q157*
c.469C>T
1 paper
NM_017849.4
p.A156fs
c.466_467fs
1 paper
NM_017849.4
p.F173fs
c.517_518fs
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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."