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.S172S

c.516T>G

Surrounding Variants

1 paper

NM_000043.6

p.S172S

c.516T>A

1 paper

NM_000043.6

p.N173H

c.517A>C

1 paper

NM_000043.6

p.N173D

c.517A>G

1 paper

NM_000043.6

p.N173Y

c.517A>T

1 paper

NM_000043.6

p.S172Y

c.515C>A

1 paper

NM_000043.6

p.S172C

c.515C>G

2 papers

NM_000043.6

p.S172F

c.515C>T

1 paper

NM_000043.6

p.N173T

c.518A>C

2 papers

NM_000043.6

p.N173S

c.518A>G

1 paper

NM_000043.6

p.N173I

c.518A>T

1 paper

NM_000043.6

p.S172T

c.514T>A

1 paper

NM_000043.6

p.S172P

c.514T>C