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.E90K

c.268G>A

Surrounding Variants

1 paper

NM_000043.6

p.E90*

c.268G>T

1 paper

NM_000043.6

p.K89M

c.266A>T

1 paper

NM_000043.6

p.Y91C

c.272A>G

5 papers

NM_000043.6

p.Y91*

c.273C>A

5 papers

NM_000043.6

p.Y91*

c.273C>G

1 paper

NM_000043.6

p.G88delFs

c.263delG

1 paper

NM_000043.6

p.E87G

c.260A>G

1 paper

NM_000043.6

p.D93H

c.277G>C

2 papers

NM_000043.6

p.E87*

c.259G>T

1 paper

NM_000043.6

p.D93V

c.278A>T

1 paper

NM_000043.6

p.K94*

c.280A>T

1 paper

NM_000043.6

p.K94T

c.281A>C