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.K288ins1

c.863_864insAAT

Surrounding Variants

1 paper

NM_000043.6

p.K288E

c.862A>G

1 paper

NM_000043.6

p.K288_A290delFs

c.862_869del8

1 paper

NM_000043.6

p.K287_K288insA

c.859_863ins3

1 paper

NM_000043.6

p.E289D

c.867A>C

2 papers

NM_000043.6

p.K287*

c.859A>T

1 paper

NM_000043.6

p.E289D

c.867A>T

3 papers

NM_000043.6

p.A290E

c.869C>A

1 paper

NM_000043.6

p.A290G

c.869C>G

3 papers

NM_000043.6

p.A290V

c.869C>T

8 papers

NM_000043.6

p.G286E

c.857G>A

1 paper

NM_000043.6

p.G286A

c.857G>C

3 papers

NM_000043.6

p.A290A

c.870G>A