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.E218fs

c.652_653fs

Surrounding Variants

2 papers

NM_000043.6

p.E218K

c.652G>A

3 papers

NM_000043.6

p.E218*

c.652G>T

1 paper

NM_000043.6

p.T219delFs

c.655delA

8 papers

NM_000043.6

p.E218fs

c.652_653fs

1 paper

NM_000043.6

p.E218G

c.653A>G

7 papers

NM_000043.6

p.P217_E218Splc

c.652-1G>A

2 papers

NM_000043.6

p.P217_E218Splc

c.652-1G>T

3 papers

NM_000043.6

p.P217_E218Splc

c.652-2A>G

1 paper

NM_000043.6

p.P217_E218Splc

c.652-2A>T

1 paper

NM_000043.6

p.T219_V220del2

c.655_659del6

1 paper

NM_000043.6

p.T219fs

c.655_656fs

1 paper

NM_000043.6

p.T219A

c.655A>G