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.L179V

c.535C>G

Surrounding Variants

1 paper

NM_000043.6

p.L179I

c.535C>A

1 paper

NM_000043.6

p.L179F

c.535C>T

1 paper

NM_000043.6

p.C178*

c.534T>A

1 paper

NM_000043.6

p.L179H

c.536T>A

2 papers

NM_000043.6

p.L179P

c.536T>C

1 paper

NM_000043.6

p.C178C

c.534T>C

2 papers

NM_000043.6

p.L179R

c.536T>G

1 paper

NM_000043.6

p.C178W

c.534T>G

1 paper

NM_000043.6

p.C178Y

c.533G>A

2 papers

NM_000043.6

p.C178S

c.533G>C

1 paper

NM_000043.6

p.C178F

c.533G>T

1 paper

NM_000043.6

p.L179L

c.537T>A