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

4 papers

NM_000043.6

p.A221G

c.662C>G

Surrounding Variants

1 paper

NM_000043.6

p.I222insFs

c.665dupT

1 paper

NM_000043.6

p.V220M

c.658G>A

5 papers

NM_000043.6

p.V220fs

c.658_659fs

7 papers

NM_000043.6

p.V220fs

c.658_659fs

1 paper

NM_000043.6

p.N223fs

c.667_668fs

3 papers

NM_000043.6

p.N223H

c.667A>C

3 papers

NM_000043.6

p.N223fs

c.667_668fs

1 paper

NM_000043.6

p.N223_S225delFs

c.668_675del8

2 papers

NM_000043.6

p.T219delFs

c.657delA

8 papers

NM_000043.6

p.T219_V220delFs

c.657_658delAG

1 paper

NM_000043.6

p.T219fs

c.655_656fs

1 paper

NM_000043.6

p.T219A

c.655A>G