Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.L100_C102del3

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
1 paper
NM_001065.4
p.L100_C102del3
c.298_305del9
Surrounding Variants
6 papers
NM_001065.4
p.C102W
c.306C>G
1 paper
NM_001065.4
p.S103C
c.308C>G
2 papers
NM_001065.4
p.C102S
c.305G>C
5 papers
NM_001065.4
p.C102Y
c.305G>A
1 paper
NM_001065.4
p.S103S
c.309C>G
4 papers
NM_001065.4
p.C102R
c.304T>C
2 papers
NM_001065.4
p.C102S
c.304T>A
1 paper
NM_001065.4
p.S103delFs
c.309delG
1 paper
NM_001065.4
p.S101R
c.303C>G
1 paper
NM_001065.4
p.R97_K104ins2
c.290_310dup21
2 papers
NM_001065.4
p.C105R
c.313T>C
3 papers
NM_001065.4
p.C105Y
c.314G>A
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