Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.L19*

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
2 papers
NM_001065.4
p.L19*
c.56T>A
Surrounding Variants
3 papers
NM_001065.4
p.V20A
c.59T>C
1 paper
NM_001065.4
p.L18V
c.52C>G
1 paper
NM_001065.4
p.L18M
c.52C>A
1 paper
NM_001065.4
p.G21R
c.61G>C
1 paper
NM_001065.4
p.E17K
c.49G>A
1 paper
NM_001065.4
p.L15H
c.44T>A
1 paper
NM_001065.4
p.Y23S
c.68A>C
1 paper
NM_001065.4
p.L15F
c.43C>T
4 papers
NM_001065.4
p.L15V
c.43C>G
14 papers
NM_001065.4
p.P24A
c.70C>G
1 paper
NM_001065.4
p.V14E
c.41T>A
1 paper
NM_001065.4
p.P24P
c.72C>G
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