Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.P4A

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.P4A
c.10C>G
Surrounding Variants
1 paper
NM_017849.4
p.A3G
c.8C>G
1 paper
NM_017849.4
p.A3T
c.7G>A
2 papers
NM_017849.4
p.P4delFs
c.12delG
2 papers
NM_017849.4
p.Y2*
c.6C>G
2 papers
NM_017849.4
p.Y2*
c.6C>A
1 paper
NM_017849.4
p.G5fs
c.13_14fs
1 paper
NM_017849.4
p.Y2D
c.4T>G
1 paper
NM_017849.4
p.Y2H
c.4T>C
1 paper
NM_017849.4
p.G6R
c.16G>C
4 papers
NM_017849.4
p.M1I
c.3G>T
1 paper
NM_017849.4
p.M1_Y2insFs
c.3_4insA
1 paper
NM_017849.4
p.M1I
c.3G>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."