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.V41G

c.122T>G

Surrounding Variants

1 paper

NM_000043.6

p.V41I

c.121G>A

1 paper

NM_000043.6

p.V41F

c.121G>T

1 paper

NM_000043.6

p.V41V

c.123T>A

1 paper

NM_000043.6

p.V41V

c.123T>G

2 papers

NM_000043.6

p.T42insFs

c.124dupA

1 paper

NM_000043.6

p.T42fs

c.124_125fs

11 papers

NM_000043.6

p.T42A

c.124A>G

2 papers

NM_000043.6

p.T42fs

c.124_125fs

2 papers

NM_000043.6

p.T40A

c.118A>G

3 papers

NM_000043.6

p.T43A

c.127A>G

1 paper

NM_000043.6

p.K39R

c.116A>G

1 paper

NM_000043.6

p.K39fs

c.115_116fs