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.L177P

c.530T>C

Surrounding Variants

1 paper

NM_000043.6

p.L177H

c.530T>A

4 papers

NM_000043.6

p.L177R

c.530T>G

1 paper

NM_000043.6

p.L177I

c.529C>A

1 paper

NM_000043.6

p.L177V

c.529C>G

2 papers

NM_000043.6

p.L177F

c.529C>T

1 paper

NM_000043.6

p.L177L

c.531T>A

1 paper

NM_000043.6

p.L177L

c.531T>C

1 paper

NM_000043.6

p.L177L

c.531T>G

7 papers

NM_000043.6

p.W176*

c.528G>A

1 paper

NM_000043.6

p.W176C

c.528G>C

1 paper

NM_000043.6

p.W176C

c.528G>T

2 papers

NM_000043.6

p.C178S

c.532T>A