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.C82insFs

c.244_245insT

Surrounding Variants

2 papers

NM_000043.6

p.C82R

c.244T>C

1 paper

NM_000043.6

p.D81N

c.241G>A

1 paper

NM_000043.6

p.C82Y

c.245G>A

1 paper

NM_000043.6

p.C82C

c.246C>T

1 paper

NM_000043.6

p.P80L

c.239C>T

2 papers

NM_000043.6

p.V83M

c.247G>A

1 paper

NM_000043.6

p.P84_Q86delFs

c.252_256del5

1 paper

NM_000043.6

p.P80fs

c.238_239fs

1 paper

NM_000043.6

p.E79D

c.237A>C

1 paper

NM_000043.6

p.E79D

c.237A>T

1 paper

NM_000043.6

p.P84A

c.250C>G

1 paper

NM_000043.6

p.P84S

c.250C>T