Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127

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
1–12 of 258 variants
14 papers
NM_017849.4
p.L39_S40delFs
c.116_119del4
10 papers
NM_017849.4
p.V137Splc
c.410-2A>C
10 papers
NM_017849.4
p.A222V
c.665C>T
9 papers
NM_017849.4
p.C140Y
c.419G>A
9 papers
NM_017849.4
p.A207A
c.621G>A
8 papers
NM_017849.4
p.I41fs
c.121_122fs
8 papers
NM_017849.4
p.G117_H120del4
c.349_359del12
7 papers
NM_017849.4
p.D70N
c.208G>A
7 papers
NM_017849.4
p.V90M
c.268G>A
6 papers
NM_017849.4
p.P18L
c.53C>T
6 papers
NM_017849.4
p.S147del1
c.439_440delAGA
6 papers
NM_017849.4
p.Q160_H161del1
c.480_482delTGC
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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."