Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.P200S

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.P200S
c.598C>T
Surrounding Variants
1 paper
NM_017849.4
p.P200T
c.598C>A
1 paper
NM_017849.4
p.P200H
c.599C>A
1 paper
NM_017849.4
p.E204A
c.611A>C
1 paper
NM_017849.4
p.E205*
c.613G>T
2 papers
NM_017849.4
p.N194N
c.582C>T
1 paper
NM_017849.4
p.E205A
c.614A>C
1 paper
NM_017849.4
p.A207T
c.619G>A
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.T191T
c.573G>A
5 papers
NM_017849.4
p.T191delFs
c.572delG
3 papers
NM_017849.4
p.T191fs
c.571_572fs
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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."