Varaico: Literature-Extracted Genetic Variants

Gene:FAF1
Variant:p.D295A

FAF1

101 papers

RefSeq Summary

Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS ant...

Pfam Domains

UBA_4aa 8–43UCSCUBA-like domain
FAF1aa 337–482UCSCFas-associated factor 1
UBXaa 568–648UCSCUBX domain

Gene Aliases

HGNC Name

Fas associated factor 1

HGNC Alias Symbols

CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007051.3
p.D295A
c.884A>C
Surrounding Variants
1 paper
NM_007051.3
p.D295ins3
c.884_885ins9
1 paper
NM_007051.3
p.D295H
c.883G>C
1 paper
NM_007051.3
p.F296fs
c.886_887fs
1 paper
NM_007051.3
p.E297Q
c.889G>C
1 paper
NM_007051.3
p.E297A
c.890A>C
1 paper
NM_007051.3
p.G293*
c.877G>T
1 paper
NM_007051.3
p.T300I
c.899C>T
1 paper
NM_007051.3
p.D290N
c.868G>A
1 paper
NM_007051.3
p.G303V
c.908G>T
1 paper
NM_007051.3
p.D305H
c.913G>C
1 paper
NM_007051.3
p.E308Q
c.922G>C
1 paper
NM_007051.3
p.S314L
c.941C>T
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