Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.P75L

TNFRSF1A

1,150 papers

RefSeq Summary

This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectiv...

Pfam Domains

TNFR_c6aa 44–81UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 44–81UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 84–125UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 84–125UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 127–166UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 127–166UCSCTNFR/NGFR cysteine-rich region

Gene Aliases

HGNC Name

TNF receptor superfamily member 1A

HGNC Previous Symbol

TNFR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
35 papers
NM_001065.4
p.P75L
c.224C>T
Surrounding Variants
1 paper
NM_001065.4
p.P75Q
c.224C>A
1 paper
NM_001065.4
p.P75S
c.223C>T
1 paper
NM_001065.4
p.G74V
c.221G>T
1 paper
NM_001065.4
p.G76G
c.228G>A
6 papers
NM_001065.4
p.Q77L
c.230A>T
1 paper
NM_001065.4
p.P75_G76del2
c.223_227del6
1 paper
NM_001065.4
p.P73T
c.217C>A
1 paper
NM_001065.4
p.C72_P73insFs
c.216_217insA
3 papers
NM_001065.4
p.C72F
c.215G>T
5 papers
NM_001065.4
p.C72S
c.215G>C
7 papers
NM_001065.4
p.C72Y
c.215G>A
2 papers
NM_001065.4
p.C72G
c.214T>G
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