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.L12P

c.35T>C

Surrounding Variants

1 paper

NM_000043.6

p.L12R

c.35T>G

1 paper

NM_000043.6

p.L12fs

c.34_35fs

1 paper

NM_000043.6

p.L12L

c.36T>A

1 paper

NM_000043.6

p.T13insFs

c.37dupA

1 paper

NM_000043.6

p.T13fs

c.37_38fs

1 paper

NM_000043.6

p.T13R

c.38C>G

1 paper

NM_000043.6

p.V11G

c.32T>G

2 papers

NM_000043.6

p.V11I

c.31G>A

1 paper

NM_000043.6

p.T13T

c.39G>A

1 paper

NM_000043.6

p.V11L

c.31G>C

1 paper

NM_000043.6

p.S14T

c.40T>A

1 paper

NM_000043.6

p.V15I

c.43G>A