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.I184I

c.552T>C

Surrounding Variants

1 paper

NM_000043.6

p.I184I

c.552T>A

1 paper

NM_000043.6

p.I184M

c.552T>G

1 paper

NM_000043.6

p.P185T

c.553C>A

2 papers

NM_000043.6

p.P185A

c.553C>G

1 paper

NM_000043.6

p.P185S

c.553C>T

1 paper

NM_000043.6

p.I184N

c.551T>A

1 paper

NM_000043.6

p.I184S

c.551T>G

2 papers

NM_000043.6

p.I184L

c.550A>C

4 papers

NM_000043.6

p.I184V

c.550A>G

1 paper

NM_000043.6

p.I184F

c.550A>T

1 paper

NM_000043.6

p.P185Q

c.554C>A

1 paper

NM_000043.6

p.P185R

c.554C>G