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.K316T

c.947A>C

Surrounding Variants

1 paper

NM_000043.6

p.K316E

c.946A>G

1 paper

NM_000043.6

p.D317N

c.949G>A

1 paper

NM_000043.6

p.D317insFs

c.949_950insC

1 paper

NM_000043.6

p.D317G

c.950A>G

1 paper

NM_000043.6

p.D317V

c.950A>T

1 paper

NM_000043.6

p.L315F

c.943C>T

1 paper

NM_000043.6

p.I318N

c.953T>A

1 paper

NM_000043.6

p.I314S

c.941T>G

1 paper

NM_000043.6

p.T319fs

c.955_956fs

5 papers

NM_000043.6

p.T319I

c.956C>T

3 papers

NM_000043.6

p.S320G

c.958A>G

1 paper

NM_000043.6

p.I313delFs

c.937delA