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

7 papers

NM_000043.6

p.T241P

c.721A>C

Surrounding Variants

1 paper

NM_000043.6

p.T241A

c.721A>G

8 papers

NM_000043.6

p.T241K

c.722C>A

2 papers

NM_000043.6

p.M240K

c.719T>A

1 paper

NM_000043.6

p.M240insFs

c.718_719ins4

1 paper

NM_000043.6

p.M240fs

c.718_719fs

1 paper

NM_000043.6

p.M240insFs

c.719dupT

1 paper

NM_000043.6

p.M240V

c.718A>G

1 paper

NM_000043.6

p.M240fs

c.718_719fs

1 paper

NM_000043.6

p.L242insFs

c.725dupT

1 paper

NM_000043.6

p.L242fs

c.724_725fs

2 papers

NM_000043.6

p.L242R

c.725T>G

1 paper

NM_000043.6

p.S243fs

c.727_728fs