Varaico: Literature-Extracted Genetic Variants

Gene:TMIGD3
Variant:p.S271L

TMIGD3

17 papers

RefSeq Summary

This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the ...

Gene Aliases

HGNC Name

transmembrane and immunoglobulin domain containing 3

HGNC Alias Symbol

AD026

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020683.7
p.S271L
c.812C>T
Surrounding Variants
1 paper
NM_020683.7
p.R316delFs
c.948delC
1 paper
NM_020683.7
p.R323T
c.968G>C
1 paper
NM_020683.7
p.V253I
c.757G>A
1 paper
NM_020683.7
p.K185R
c.554A>G
2 papers
NM_020683.7
p.A170S
c.508G>T
1 paper
NM_020683.7
p.V166delFs
c.496delC
1 paper
NM_020683.7
p.Q346E
c.1036C>G
1 paper
NM_020683.7
p.L150L
c.450C>G
1 paper
NM_020683.7
p.M140T
c.419T>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."