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.H111Y

c.331C>T

Surrounding Variants

1 paper

NM_000043.6

p.H111P

c.332A>C

10 papers

NM_000043.6

p.H111R

c.332A>G

1 paper

NM_000043.6

p.G110E

c.329G>A

1 paper

NM_000043.6

p.G110V

c.329G>T

1 paper

NM_000043.6

p.H111Q

c.333T>A

1 paper

NM_000043.6

p.G110R

c.328G>A

1 paper

NM_000043.6

p.G110R

c.328G>C

1 paper

NM_000043.6

p.G112D

c.335G>A

1 paper

NM_000043.6

p.G112A

c.335G>C

1 paper

NM_000043.6

p.G112V

c.335G>T

2 papers

NM_000043.6

p.G112Splc

c.334+2T>C

2 papers

NM_000043.6

p.G112Splc

c.334+3A>C