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.V75I

c.223G>A

Surrounding Variants

4 papers

NM_000043.6

p.T74T

c.222A>G

2 papers

NM_000043.6

p.C73*

c.219C>A

1 paper

NM_000043.6

p.C73_T74delFs

c.219_220delCA

1 paper

NM_000043.6

p.D78delFs

c.232delG

1 paper

NM_000043.6

p.G77W

c.229G>T

1 paper

NM_000043.6

p.G77E

c.230G>A

1 paper

NM_000043.6

p.D72G

c.215A>G

1 paper

NM_000043.6

p.D72N

c.214G>A

2 papers

NM_000043.6

p.D78E

c.234T>A

2 papers

NM_000043.6

p.D78E

c.234T>G

1 paper

NM_000043.6

p.R71G

c.211A>G

1 paper

NM_000043.6

p.R71W

c.211A>T