Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF8
Variant:p.R199H

TNFRSF8

86 papers

RefSeq Summary

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this recepto...

Pfam Domains

TNFR_c6aa 69–106UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 69–106UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 108–149UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 108–149UCSCTNFR/NGFR cysteine-rich region

Gene Aliases

HGNC Name

TNF receptor superfamily member 8

HGNC Previous Symbol

D1S166E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001243.5
p.R199H
c.596G>A
Surrounding Variants
1 paper
NM_001243.5
p.G197insFs
c.591dupC
1 paper
NM_001243.5
p.S206T
c.616T>A
1 paper
NM_001243.5
p.P215S
c.643C>T
1 paper
NM_001243.5
p.P181R
c.542C>G
1 paper
NM_001243.5
p.K178R
c.533A>G
1 paper
NM_001243.5
p.S222R
c.664A>C
1 paper
NM_001243.5
p.K167R
c.500A>G
1 paper
NM_001243.5
p.C166R
c.496T>C
1 paper
NM_001243.5
p.P163L
c.488C>T
3 papers
NM_001243.5
p.S162N
c.485G>A
1 paper
NM_001243.5
p.G141Splc
c.422-1100C>T
1 paper
NM_001243.5
p.G141Splc
c.422-1165T>A
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