Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.V143I

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.V143I
c.427G>A
Surrounding Variants
1 paper
NM_017849.4
p.T142ins0
c.424_426dupACC
1 paper
NM_017849.4
p.T142del1
c.424_425delGGT
1 paper
NM_017849.4
p.A141T
c.421G>A
9 papers
NM_017849.4
p.C140Y
c.419G>A
4 papers
NM_017849.4
p.V137_Q139delFs
c.410_417del8
4 papers
NM_017849.4
p.C140R
c.418T>C
1 paper
NM_017849.4
p.Q139H
c.417G>T
1 paper
NM_017849.4
p.Q139H
c.417G>C
1 paper
NM_017849.4
p.Q139R
c.416A>G
2 papers
NM_017849.4
p.Q139*
c.415C>T
1 paper
NM_017849.4
p.L138fs
c.412_413fs
1 paper
NM_017849.4
p.S147C
c.440C>G
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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."