Varaico: Literature-Extracted Genetic Variants

Gene:FAF1
Variant:p.R99W

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.R99W
c.295C>T
Surrounding Variants
2 papers
NM_007051.3
p.Q97*
c.289C>T
1 paper
NM_007051.3
p.F103L
c.307T>C
1 paper
NM_007051.3
p.F103L
c.309C>G
1 paper
NM_007051.3
p.F103L
c.309C>A
1 paper
NM_007051.3
p.P89L
c.266C>T
1 paper
NM_007051.3
p.P89S
c.265C>T
1 paper
NM_007051.3
p.P86fs
c.256_257fs
3 papers
NM_007051.3
p.R85P
c.254G>C
1 paper
NM_007051.3
p.S81_S82del2
c.241_245del6
1 paper
NM_007051.3
p.S81_S82del1
c.243_245delGAA
1 paper
NM_007051.3
p.S82*
c.245C>G
1 paper
NM_007051.3
p.S82*
c.245C>A
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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."