Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.C100R

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.C100R
c.298T>C
Surrounding Variants
1 paper
NM_017849.4
p.C100S
c.299G>C
1 paper
NM_017849.4
p.A98insFs
c.292dupG
2 papers
NM_017849.4
p.A98T
c.292G>A
1 paper
NM_017849.4
p.A97V
c.290C>T
1 paper
NM_017849.4
p.G103C
c.307G>T
2 papers
NM_017849.4
p.G103fs
c.307_308fs
3 papers
NM_017849.4
p.G103delFs
c.308delC
2 papers
NM_017849.4
p.L105R
c.314T>G
1 paper
NM_017849.4
p.L105P
c.314T>C
3 papers
NM_017849.4
p.R94Q
c.281G>A
5 papers
NM_017849.4
p.R94W
c.280C>T
1 paper
NM_017849.4
p.S107fs
c.319_320fs
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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."