Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.S212*

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.S212*
c.635C>A
Surrounding Variants
1 paper
NM_017849.4
p.S212*
c.635C>G
1 paper
NM_017849.4
p.E213*
c.637G>T
3 papers
NM_017849.4
p.E209_M214insFs
c.627_640dup14
1 paper
NM_017849.4
p.M214delFs
c.640delT
3 papers
NM_017849.4
p.M214fs
c.640_641fs
1 paper
NM_017849.4
p.E209A
c.626A>C
1 paper
NM_017849.4
p.E216*
c.646G>T
1 paper
NM_017849.4
p.A207A
c.621G>C
9 papers
NM_017849.4
p.A207A
c.621G>A
1 paper
NM_017849.4
p.A207T
c.619G>A
1 paper
NM_017849.4
p.E218E
c.654G>A
1 paper
NM_017849.4
p.E205A
c.614A>C
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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."