Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.D322E

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.D322E
c.966C>G
Surrounding Variants
1 paper
NM_001065.4
p.D322E
c.966C>A
1 paper
NM_001065.4
p.P323L
c.968C>T
2 papers
NM_001065.4
p.I324N
c.971T>A
1 paper
NM_001065.4
p.A326T
c.976G>A
1 paper
NM_001065.4
p.Q319R
c.956A>G
2 papers
NM_001065.4
p.Q319*
c.955C>T
1 paper
NM_001065.4
p.A326G
c.977C>G
1 paper
NM_001065.4
p.Q319E
c.955C>G
1 paper
NM_001065.4
p.A315_Y318del4
c.943_953del12
1 paper
NM_001065.4
p.Y318*
c.954T>A
1 paper
NM_001065.4
p.P316Fs
c.946_947delinsAFs
1 paper
NM_001065.4
p.L329L
c.987C>A
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