Varaico: Literature-Extracted Genetic Variants

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.H60N

c.178C>A

Surrounding Variants

1 paper

NM_000043.6

p.H60_P64insFs

c.179_192dup14

1 paper

NM_000043.6

p.H60fs

c.178_179fs

1 paper

NM_000043.6

p.C59Y

c.176G>A

1 paper

NM_000043.6

p.H60delFs

c.178delC

1 paper

NM_000043.6

p.K61delFs

c.182delA

2 papers

NM_000043.6

p.K61fs

c.181_182fs

1 paper

NM_000043.6

p.K61insFs

c.182_183ins4

1 paper

NM_000043.6

p.K61M

c.182A>T

1 paper

NM_000043.6

p.F58L

c.174C>G

1 paper

NM_000043.6

p.C59delFs

c.175delT

2 papers

NM_000043.6

p.K61K

c.183G>A

1 paper

NM_000043.6

p.Q57Q

c.171A>G