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

5 papers

NM_000043.6

p.E256K

c.766G>A

Surrounding Variants

1 paper

NM_000043.6

p.E256Q

c.766G>C

2 papers

NM_000043.6

p.E256*

c.766G>T

3 papers

NM_000043.6

p.E256G

c.767A>G

1 paper

NM_000043.6

p.E256del1

c.766_767delGAA

1 paper

NM_000043.6

p.A257T

c.769G>A

5 papers

NM_000043.6

p.A257D

c.770C>A

1 paper

NM_000043.6

p.I259delFs

c.775delA

1 paper

NM_000043.6

p.V254D

c.761T>A

2 papers

NM_000043.6

p.V254G

c.761T>G

1 paper

NM_000043.6

p.V254I

c.760G>A

1 paper

NM_000043.6

p.K258N

c.774A>C

1 paper

NM_000043.6

p.K258N

c.774A>T