Varaico: Literature-Extracted Genetic Variants

Gene:FAF1
Variant:p.V220V

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
2 papers
NM_007051.3
p.V220V
c.660A>G
Surrounding Variants
1 paper
NM_007051.3
p.E219_V220Splc
c.658-1G>A
1 paper
NM_007051.3
p.R222I
c.665G>T
1 paper
NM_007051.3
p.Y225*
c.675T>G
1 paper
NM_007051.3
p.Y225*
c.675T>A
1 paper
NM_007051.3
p.H234R
c.701A>G
1 paper
NM_007051.3
p.E238D
c.714G>T
1 paper
NM_007051.3
p.E238D
c.714G>C
1 paper
NM_007051.3
p.P241S
c.721C>T
1 paper
NM_007051.3
p.T245A
c.733A>G
1 paper
NM_007051.3
p.S243_T245del3
c.727_734del9
1 paper
NM_007051.3
p.D247N
c.739G>A
1 paper
NM_007051.3
p.D246_D247Fs
c.736_741delinsTGTGTGTGAAGFs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."