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.I187L

c.559A>C

Surrounding Variants

2 papers

NM_000043.6

p.I187V

c.559A>G

1 paper

NM_000043.6

p.I187F

c.559A>T

1 paper

NM_000043.6

p.V188_W189delFs

c.563_566del4

1 paper

NM_000043.6

p.L186L

c.558A>C

1 paper

NM_000043.6

p.L186L

c.558A>G

1 paper

NM_000043.6

p.L186L

c.558A>T

2 papers

NM_000043.6

p.I187N

c.560T>A

1 paper

NM_000043.6

p.I187T

c.560T>C

1 paper

NM_000043.6

p.I187S

c.560T>G

2 papers

NM_000043.6

p.L186Q

c.557T>A

1 paper

NM_000043.6

p.I187I

c.561T>A

1 paper

NM_000043.6

p.L186P

c.557T>C