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

10 papers

NM_000043.6

p.R250P

c.749G>C

Surrounding Variants

21 papers

NM_000043.6

p.R250Q

c.749G>A

3 papers

NM_000043.6

p.R250L

c.749G>T

2 papers

NM_000043.6

p.R250G

c.748C>G

12 papers

NM_000043.6

p.R250*

c.748C>T

1 paper

NM_000043.6

p.K251E

c.751A>G

1 paper

NM_000043.6

p.K251insFs

c.753dupG

1 paper

NM_000043.6

p.K251T

c.752A>C

1 paper

NM_000043.6

p.K251M

c.752A>T

1 paper

NM_000043.6

p.V249I

c.745G>A

3 papers

NM_000043.6

p.V249L

c.745G>C

1 paper

NM_000043.6

p.N252delFs

c.755delA

1 paper

NM_000043.6

p.N252fs

c.754_755fs