Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.V188I

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
1 paper
NM_000043.6
p.V188I
c.562G>A
Surrounding Variants
1 paper
NM_000043.6
p.V188L
c.562G>C
1 paper
NM_000043.6
p.V188fs
c.562_563fs
1 paper
NM_000043.6
p.V188F
c.562G>T
1 paper
NM_000043.6
p.I187I
c.561T>A
1 paper
NM_000043.6
p.V188D
c.563T>A
1 paper
NM_000043.6
p.I187I
c.561T>C
1 paper
NM_000043.6
p.V188A
c.563T>C
1 paper
NM_000043.6
p.I187M
c.561T>G
1 paper
NM_000043.6
p.V188G
c.563T>G
2 papers
NM_000043.6
p.I187N
c.560T>A
1 paper
NM_000043.6
p.V188V
c.564T>A
1 paper
NM_000043.6
p.I187T
c.560T>C
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