Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF14
Variant:p.C42S

TNFRSF14

308 papers

RefSeq Summary

This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immun...

Pfam Domains

TNFR_c6aa 78–119UCSCTNFR/NGFR cysteine-rich region

Gene Aliases

HGNC Name

TNF receptor superfamily member 14

HGNC Alias Symbols

HVEM; ATAR; TR2; LIGHTR; HVEA; CD270

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_003820.4
p.C42S
c.124T>A
Surrounding Variants
2 papers
NM_003820.4
p.C42R
c.124T>C
1 paper
NM_003820.4
p.C42delFs
c.125delG
1 paper
NM_003820.4
p.C42fs
c.124_125fs
6 papers
NM_003820.4
p.C42Y
c.125G>A
5 papers
NM_003820.4
p.C42S
c.125G>C
1 paper
NM_003820.4
p.C42W
c.126C>G
1 paper
NM_003820.4
p.C42C
c.126C>T
1 paper
NM_003820.4
p.K43*
c.127A>T
1 paper
NM_003820.4
p.E44del1
c.130_131delGAG
1 paper
NM_003820.4
p.S41delFs
c.123delC
1 paper
NM_003820.4
p.P40L
c.119C>T
2 papers
NM_003820.4
p.P40S
c.118C>T
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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."