Varaico: Literature-Extracted Genetic Variants

Gene:FAF1
Variant:p.E325V

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.E325V
c.974A>T
Surrounding Variants
1 paper
NM_007051.3
p.E325K
c.973G>A
1 paper
NM_007051.3
p.E340fs
c.1018_1019fs
1 paper
NM_007051.3
p.E340delFs
c.1019_1020delCT
1 paper
NM_007051.3
p.K319fs
c.955_956fs
1 paper
NM_007051.3
p.A316V
c.947C>T
1 paper
NM_007051.3
p.S314L
c.941C>T
1 paper
NM_007051.3
p.R344G
c.1030A>G
1 paper
NM_007051.3
p.E308Q
c.922G>C
1 paper
NM_007051.3
p.D305H
c.913G>C
1 paper
NM_007051.3
p.F353I
c.1057T>A
1 paper
NM_007051.3
p.G303V
c.908G>T
1 paper
NM_007051.3
p.I354fs
c.1060_1061fs
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