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.Q283H

c.849A>T

Surrounding Variants

2 papers

NM_000043.6

p.Q283H

c.849A>C

3 papers

NM_000043.6

p.Q283R

c.848A>G

2 papers

NM_000043.6

p.L284F

c.850C>T

1 paper

NM_000043.6

p.Q283E

c.847C>G

1 paper

NM_000043.6

p.Q283*

c.847C>T

3 papers

NM_000043.6

p.L284P

c.851T>C

1 paper

NM_000043.6

p.H282P

c.845A>C

2 papers

NM_000043.6

p.H282R

c.845A>G

1 paper

NM_000043.6

p.H285D

c.853C>G

1 paper

NM_000043.6

p.H285Y

c.853C>T

1 paper

NM_000043.6

p.H285fs

c.853_854fs

1 paper

NM_000043.6

p.H285_G286delFs

c.854_857del4