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.G238*

c.712G>T

Surrounding Variants

2 papers

NM_000043.6

p.G238A

c.713G>C

2 papers

NM_000043.6

p.A237V

c.710C>T

1 paper

NM_000043.6

p.A237T

c.709G>A

5 papers

NM_000043.6

p.A237P

c.709G>C

1 paper

NM_000043.6

p.A237S

c.709G>T

1 paper

NM_000043.6

p.I236insFs

c.707_708insG

1 paper

NM_000043.6

p.M240insFs

c.718_719ins4

1 paper

NM_000043.6

p.M240fs

c.718_719fs

1 paper

NM_000043.6

p.M240insFs

c.719dupT

1 paper

NM_000043.6

p.M240V

c.718A>G

1 paper

NM_000043.6

p.M240fs

c.718_719fs

1 paper

NM_000043.6

p.I236fs

c.706_707fs