Varaico: Literature-Extracted Genetic Variants

Gene:FAF1
Variant:p.I217V

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.I217V
c.649A>G
Surrounding Variants
1 paper
NM_007051.3
p.T216T
c.648T>C
1 paper
NM_007051.3
p.S214N
c.641G>A
1 paper
NM_007051.3
p.R205P
c.614G>C
1 paper
NM_007051.3
p.E202E
c.606A>G
1 paper
NM_007051.3
p.L190S
c.569T>C
1 paper
NM_007051.3
p.E188E
c.564G>A
1 paper
NM_007051.3
p.E188*
c.562G>T
1 paper
NM_007051.3
p.Q187H
c.561G>T
1 paper
NM_007051.3
p.Q187H
c.561G>C
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