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.Q244*

c.730C>T

Surrounding Variants

1 paper

NM_000043.6

p.S243fs

c.727_728fs

1 paper

NM_000043.6

p.S243fs

c.727_728fs

1 paper

NM_000043.6

p.V245I

c.733G>A

1 paper

NM_000043.6

p.V245L

c.733G>C

2 papers

NM_000043.6

p.L242R

c.725T>G

1 paper

NM_000043.6

p.K246del1

c.736_737delAAA

1 paper

NM_000043.6

p.L242insFs

c.725dupT

1 paper

NM_000043.6

p.L242fs

c.724_725fs

8 papers

NM_000043.6

p.T241K

c.722C>A

7 papers

NM_000043.6

p.T241P

c.721A>C

1 paper

NM_000043.6

p.T241A

c.721A>G

1 paper

NM_000043.6

p.G247R

c.739G>C