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.L306I

c.916C>A

Surrounding Variants

1 paper

NM_000043.6

p.L306P

c.917T>C

1 paper

NM_000043.6

p.L306insFs

c.916_917ins4

1 paper

NM_000043.6

p.T305I

c.914C>T

1 paper

NM_000043.6

p.T305fs

c.913_914fs

1 paper

NM_000043.6

p.T305A

c.913A>G

1 paper

NM_000043.6

p.A307fs

c.919_920fs

2 papers

NM_000043.6

p.A307fs

c.919_920fs

3 papers

NM_000043.6

p.C304*

c.912T>A

1 paper

NM_000043.6

p.T305insFs

c.913dupA

1 paper

NM_000043.6

p.I310insFs

c.928dupA

1 paper

NM_000043.6

p.L303R

c.908T>G

1 paper

NM_000043.6

p.N302D

c.904A>G