Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.S62*

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.S62*
c.185C>A
Surrounding Variants
2 papers
NM_017849.4
p.S62W
c.185C>G
1 paper
NM_017849.4
p.C61R
c.181T>C
1 paper
NM_017849.4
p.Q64insFs
c.191dupA
3 papers
NM_017849.4
p.Q64insFs
c.190_191dupCA
1 paper
NM_017849.4
p.T60A
c.178A>G
1 paper
NM_017849.4
p.H55_Q64del0
c.163_192del30
1 paper
NM_017849.4
p.G59D
c.176G>A
2 papers
NM_017849.4
p.V68delFs
c.202delC
7 papers
NM_017849.4
p.D70N
c.208G>A
4 papers
NM_017849.4
p.L54delFs
c.160_161delAA
1 paper
NM_017849.4
p.D70G
c.209A>G
5 papers
NM_017849.4
p.W53S
c.158G>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."