Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.D82_Q88delFs

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.D82_Q88delFs
c.245_264del20
Surrounding Variants
2 papers
NM_017849.4
p.T89fs
c.265_266fs
7 papers
NM_017849.4
p.V90M
c.268G>A
1 paper
NM_017849.4
p.V90fs
c.268_269fs
1 paper
NM_017849.4
p.T89_V90delFs
c.267_268delCT
1 paper
NM_017849.4
p.T89_V90delFs
c.265_268del4
1 paper
NM_017849.4
p.P87fs
c.259_260fs
1 paper
NM_017849.4
p.L92V
c.274C>G
1 paper
NM_017849.4
p.N86_L91delFs
c.258_273del16
1 paper
NM_017849.4
p.M85V
c.253A>G
5 papers
NM_017849.4
p.R94W
c.280C>T
3 papers
NM_017849.4
p.R94Q
c.281G>A
2 papers
NM_017849.4
p.F83fs
c.247_248fs
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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."