Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.A290V

FAS

972 papers

RefSeq Summary

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of program...

Pfam Domains

TNFR_c6aa 85–127UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 129–165UCSCTNFR/NGFR cysteine-rich region
Deathaa 245–329UCSCDeath domain

Gene Aliases

HGNC Name

Fas cell surface death receptor

HGNC Previous Symbols

FAS1; APT1; TNFRSF6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000043.6
p.A290V
c.869C>T
Surrounding Variants
3 papers
NM_000043.6
p.A290E
c.869C>A
1 paper
NM_000043.6
p.A290G
c.869C>G
3 papers
NM_000043.6
p.A290A
c.870G>A
1 paper
NM_000043.6
p.E289D
c.867A>C
1 paper
NM_000043.6
p.E289D
c.867A>T
3 papers
NM_000043.6
p.Y291D
c.871T>G
1 paper
NM_000043.6
p.Y291C
c.872A>G
1 paper
NM_000043.6
p.Y291F
c.872A>T
1 paper
NM_000043.6
p.D292Y
c.874G>T
1 paper
NM_000043.6
p.K288ins1
c.863_864insAAT
1 paper
NM_000043.6
p.D292_L294delFs
c.876_880del5
1 paper
NM_000043.6
p.K288E
c.862A>G
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