Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.L138Q

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.L138Q
c.413T>A
Surrounding Variants
2 papers
NM_017849.4
p.L138R
c.413T>G
1 paper
NM_017849.4
p.L138P
c.413T>C
1 paper
NM_017849.4
p.L138fs
c.412_413fs
2 papers
NM_017849.4
p.L138fs
c.412_413fs
1 paper
NM_017849.4
p.L138V
c.412C>G
1 paper
NM_017849.4
p.V137V
c.411T>A
2 papers
NM_017849.4
p.Q139*
c.415C>T
1 paper
NM_017849.4
p.Q139R
c.416A>G
1 paper
NM_017849.4
p.Q139H
c.417G>T
2 papers
NM_017849.4
p.V137Splc
c.410-1G>C
1 paper
NM_017849.4
p.Q139H
c.417G>C
4 papers
NM_017849.4
p.C140R
c.418T>C
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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."