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

4 papers

NM_000043.6

p.G169Splc

c.506-1G>C

Surrounding Variants

1 paper

NM_000043.6

p.G169Splc

c.506-2A>G

1 paper

NM_000043.6

p.G169delFs

c.506delG

1 paper

NM_000043.6

p.G169Splc

c.506-3C>G

2 papers

NM_000043.6

p.G169Splc

c.506-3C>T

1 paper

NM_000043.6

p.S170T

c.508T>A

1 paper

NM_000043.6

p.S170Y

c.509C>A

1 paper

NM_000043.6

p.S170C

c.509C>G

4 papers

NM_000043.6

p.S170F

c.509C>T

1 paper

NM_000043.6

p.S170S

c.510C>A

3 papers

NM_000043.6

p.G169Splc

c.506-6C>G

1 paper

NM_000043.6

p.S170S

c.510C>G

1 paper

NM_000043.6

p.S170S

c.510C>T