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.R200K

c.599G>A

Surrounding Variants

1 paper

NM_000043.6

p.R200Fs

c.599delinsGTFs

1 paper

NM_000043.6

p.C199S

c.596G>C

1 paper

NM_000043.6

p.C199S

c.595T>A

2 papers

NM_000043.6

p.C199R

c.595T>C

1 paper

NM_000043.6

p.T198I

c.593C>T

1 paper

NM_000043.6

p.T198fs

c.592_593fs

1 paper

NM_000043.6

p.R203delFs

c.607_608delAG

1 paper

NM_000043.6

p.R203del1

c.607_608delAGA

1 paper

NM_000043.6

p.R203G

c.607A>G

5 papers

NM_000043.6

p.R203*

c.607A>T

1 paper

NM_000043.6

p.R203I

c.608G>T

1 paper

NM_000043.6

p.K197fs

c.589_590fs