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

3 papers

NM_000043.6

p.P217_E218Splc

c.651+1G>A

Surrounding Variants

3 papers

NM_000043.6

p.P217_E218Splc

c.651+1G>T

4 papers

NM_000043.6

p.P217_E218Splc

c.651+2T>A

11 papers

NM_000043.6

p.P217_E218Splc

c.651+2T>C

1 paper

NM_000043.6

p.P217H

c.650C>A

4 papers

NM_000043.6

p.P217fs

c.649_650fs

1 paper

NM_000043.6

p.P217_E218Splc

c.651+5G>T

1 paper

NM_000043.6

p.L215F

c.645A>C

1 paper

NM_000043.6

p.L215F

c.645A>T

1 paper

NM_000043.6

p.L215*

c.644T>A

1 paper

NM_000043.6

p.L215S

c.644T>C

1 paper

NM_000043.6

p.L215*

c.644T>G

8 papers

NM_000043.6

p.T214T

c.642T>C