Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.Y178ins5

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.Y178ins5
c.533_534ins15
Surrounding Variants
5 papers
NM_017849.4
p.Y178insFs
c.532dupT
1 paper
NM_017849.4
p.Y178insFs
c.532_533ins8
1 paper
NM_017849.4
p.Y178Y
c.534C>T
3 papers
NM_017849.4
p.Y178fs
c.532_533fs
1 paper
NM_017849.4
p.L179P
c.536T>C
1 paper
NM_017849.4
p.V180M
c.538G>A
1 paper
NM_017849.4
p.L179insFs
c.537dupG
1 paper
NM_017849.4
p.V180V
c.540G>A
1 paper
NM_017849.4
p.A181G
c.542C>G
1 paper
NM_017849.4
p.V175F
c.523G>T
3 papers
NM_017849.4
p.V175I
c.523G>A
1 paper
NM_017849.4
p.F173delFs
c.518delA
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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."