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

2 papers

NM_000043.6

p.R105S

c.315A>C

Surrounding Variants

2 papers

NM_000043.6

p.R105S

c.315A>T

2 papers

NM_000043.6

p.R105*

c.313A>T

1 paper

NM_000043.6

p.L106F

c.318G>C

1 paper

NM_000043.6

p.L106F

c.318G>T

2 papers

NM_000043.6

p.C104Y

c.311G>A

1 paper

NM_000043.6

p.C104S

c.311G>C

2 papers

NM_000043.6

p.C104insFs

c.312dupT

7 papers

NM_000043.6

p.C107Y

c.320G>A

4 papers

NM_000043.6

p.D108del1

c.322_323delGAT

1 paper

NM_000043.6

p.C104S

c.310T>A

3 papers

NM_000043.6

p.C104R

c.310T>C

4 papers

NM_000043.6

p.C104G

c.310T>G