Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.K231fs

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.K231fs
c.691_692fs
Surrounding Variants
1 paper
NM_000043.6
p.I233delFs
c.697_698delAT
1 paper
NM_000043.6
p.S230R
c.690T>A
4 papers
NM_000043.6
p.S230S
c.690T>C
1 paper
NM_000043.6
p.S230R
c.690T>G
1 paper
NM_000043.6
p.Y232delFs
c.694delT
1 paper
NM_000043.6
p.S230_Y232delFs
c.690_694del5
3 papers
NM_000043.6
p.S230fs
c.688_689fs
1 paper
NM_000043.6
p.S230R
c.688A>C
2 papers
NM_000043.6
p.S230fs
c.688_689fs
1 paper
NM_000043.6
p.Y232D
c.694T>G
1 paper
NM_000043.6
p.Y232insFs
c.695_696insA
1 paper
NM_000043.6
p.Y232fs
c.694_695fs
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