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.I313delFs

c.937delA

Surrounding Variants

1 paper

NM_000043.6

p.Q311K

c.931C>A

1 paper

NM_000043.6

p.Q311E

c.931C>G

1 paper

NM_000043.6

p.I314S

c.941T>G

1 paper

NM_000043.6

p.L315F

c.943C>T

5 papers

NM_000043.6

p.I310S

c.929T>G

1 paper

NM_000043.6

p.I310V

c.928A>G

1 paper

NM_000043.6

p.I310fs

c.928_929fs

1 paper

NM_000043.6

p.K316E

c.946A>G

1 paper

NM_000043.6

p.K316T

c.947A>C

1 paper

NM_000043.6

p.I310insFs

c.928dupA

1 paper

NM_000043.6

p.D317N

c.949G>A

1 paper

NM_000043.6

p.D317insFs

c.949_950insC