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

1–12 of 1022 variants

41 papers

NM_000043.6

p.H282Y

c.844C>T

21 papers

NM_000043.6

p.R250Q

c.749G>A

20 papers

NM_000043.6

p.E194K

c.580G>A

13 papers

NM_000043.6

p.L224*

c.671T>A

13 papers

NM_000043.6

p.L224*

c.671T>G

13 papers

NM_000043.6

p.D260V

c.779A>T

12 papers

NM_000043.6

p.R103K

c.308G>A

12 papers

NM_000043.6

p.R250*

c.748C>T

11 papers

NM_000043.6

p.T42A

c.124A>G

11 papers

NM_000043.6

p.G169Splc

c.506-16A>G

11 papers

NM_000043.6

p.P217_E218Splc

c.651+2T>C

10 papers

NM_000043.6

p.D108G

c.323A>G