Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.P287L

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
3 papers
NM_001065.4
p.P287L
c.860C>T
Surrounding Variants
2 papers
NM_001065.4
p.S286N
c.857G>A
2 papers
NM_001065.4
p.S290I
c.869G>T
1 paper
NM_001065.4
p.T292S
c.874A>T
1 paper
NM_001065.4
p.P281delFs
c.843delG
1 paper
NM_001065.4
p.F293S
c.878T>C
1 paper
NM_001065.4
p.T294T
c.882C>G
3 papers
NM_001065.4
p.F293_S295del3
c.877_884del9
1 paper
NM_001065.4
p.G278D
c.833G>A
1 paper
NM_001065.4
p.P271_T276del0
c.811_828del18
1 paper
NM_001065.4
p.P275L
c.824C>T
1 paper
NM_001065.4
p.T300fs
c.898_899fs
1 paper
NM_001065.4
p.F273F
c.819C>T
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