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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FAF1

Variant:p.R275W

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

6 papers

chr1:50596138 G>A

NM_007051.3

p.R275W

c.823C>T

Exome: 0.3% (AC=3718, hom=14)Genome: 0.3% (AC=404, hom=1)173 overlapping SVs

Surrounding Variants

1 paper

chr1:50596132 G>A

NM_007051.3

p.Q277*

c.829C>T

exact variant not in gnomAD173 overlapping SVs

1 paper

chr1:50596123 C>T

NM_007051.3

p.E280K

c.838G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a173 overlapping SVs

1 paper

chr1:50596158 C>CAGACGGGGTGGTTCACATGGCACATT

NM_007051.3

p.R268insFs

c.803_804ins26

exact variant not in gnomAD173 overlapping SVs

1 paper

chr1:50596203 T>C

NM_007051.3

p.E253G

c.758A>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)173 overlapping SVs

1 paper

chr1:50596065 G>A

NM_007051.3

p.E280_Q281Splc

c.840+56C>T

Exome: 0.0% (AC=419, hom=0)Genome: 0.0% (AC=54, hom=0)173 overlapping SVs

1 paper

chr1:50596216 T>C

NM_007051.3

p.M249V

c.745A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a174 overlapping SVs

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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."