Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.A49S

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.A49S
c.145G>T
Surrounding Variants
1 paper
NM_017849.4
p.A49G
c.146C>G
1 paper
NM_017849.4
p.L48F
c.142C>T
3 papers
NM_017849.4
p.E50_P51insFs
c.150_151insA
5 papers
NM_017849.4
p.A47D
c.140C>A
1 paper
NM_017849.4
p.A47P
c.139G>C
1 paper
NM_017849.4
p.P51fs
c.151_152fs
1 paper
NM_017849.4
p.P51fs
c.151_152fs
2 papers
NM_017849.4
p.A52S
c.154G>T
1 paper
NM_017849.4
p.A52D
c.155C>A
2 papers
NM_017849.4
p.C45R
c.133T>C
5 papers
NM_017849.4
p.W53S
c.158G>C
2 papers
NM_017849.4
p.W53*
c.158G>A
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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."