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.P183T

c.547C>A

Surrounding Variants

3 papers

NM_000043.6

p.P183A

c.547C>G

1 paper

NM_000043.6

p.P183S

c.547C>T

1 paper

NM_000043.6

p.P183Q

c.548C>A

2 papers

NM_000043.6

p.P183R

c.548C>G

2 papers

NM_000043.6

p.P183L

c.548C>T

1 paper

NM_000043.6

p.L182L

c.546G>A

1 paper

NM_000043.6

p.L182F

c.546G>C

1 paper

NM_000043.6

p.L182F

c.546G>T

1 paper

NM_000043.6

p.P183P

c.549A>C

1 paper

NM_000043.6

p.P183P

c.549A>G

1 paper

NM_000043.6

p.P183P

c.549A>T

1 paper

NM_000043.6

p.L182*

c.545T>A