Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.S40ins1

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.S40ins1
c.118_119insGCT
Surrounding Variants
1 paper
NM_017849.4
p.S40ins2
c.118_119ins6
1 paper
NM_017849.4
p.L39delFs
c.115_116delAG
2 papers
NM_017849.4
p.S40F
c.119C>T
1 paper
NM_017849.4
p.L39fs
c.115_116fs
8 papers
NM_017849.4
p.I41fs
c.121_122fs
3 papers
NM_017849.4
p.I41V
c.121A>G
1 paper
NM_017849.4
p.S40insFs
c.120dupT
14 papers
NM_017849.4
p.L39_S40delFs
c.116_119del4
2 papers
NM_017849.4
p.A38V
c.113C>T
2 papers
NM_017849.4
p.A38D
c.113C>A
1 paper
NM_017849.4
p.A38S
c.112G>T
2 papers
NM_017849.4
p.A38T
c.112G>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."