Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF14
Variant:p.I128I

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
1 paper
NM_003820.4
p.I128I
c.384C>T
Surrounding Variants
1 paper
NM_003820.4
p.C127W
c.381C>G
1 paper
NM_003820.4
p.I128_Q130del3
c.382_389del9
2 papers
NM_003820.4
p.Q130*
c.388C>T
1 paper
NM_003820.4
p.C127Y
c.380G>A
1 paper
NM_003820.4
p.C127S
c.380G>C
1 paper
NM_003820.4
p.C127S
c.379T>A
1 paper
NM_003820.4
p.F126fs
c.376_377fs
1 paper
NM_003820.4
p.D133insFs
c.397dupG
1 paper
NM_003820.4
p.G132delFs
c.394delG
3 papers
NM_003820.4
p.G132R
c.394G>A
2 papers
NM_003820.4
p.G132R
c.394G>C
1 paper
NM_003820.4
p.G132fs
c.394_395fs
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