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.D269G

c.806A>G

Surrounding Variants

1 paper

NM_000043.6

p.T270_E272delFs

c.808_815del8

1 paper

NM_000043.6

p.D269H

c.805G>C

1 paper

NM_000043.6

p.D269fs

c.805_806fs

1 paper

NM_000043.6

p.T270delFs

c.809_810delCA

2 papers

NM_000043.6

p.Q268H

c.804A>C

1 paper

NM_000043.6

p.Q268H

c.804A>T

3 papers

NM_000043.6

p.A271del1

c.811_812delGCA

1 paper

NM_000043.6

p.Q268P

c.803A>C

4 papers

NM_000043.6

p.T270I

c.809C>T

1 paper

NM_000043.6

p.Q268K

c.802C>A

1 paper

NM_000043.6

p.Q268*

c.802C>T

1 paper

NM_000043.6

p.V267V

c.801C>A