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.S209fs

c.625_626fs

Surrounding Variants

1 paper

NM_000043.6

p.S209F

c.626C>T

1 paper

NM_000043.6

p.H210Y

c.628C>T

1 paper

NM_000043.6

p.Q207K

c.619C>A

1 paper

NM_000043.6

p.Q207E

c.619C>G

1 paper

NM_000043.6

p.E211K

c.631G>A

1 paper

NM_000043.6

p.E211insFs

c.632dupA

1 paper

NM_000043.6

p.E211fs

c.631_632fs

7 papers

NM_000043.6

p.E211*

c.631G>T

1 paper

NM_000043.6

p.E211delFs

c.633delA

2 papers

NM_000043.6

p.E211fs

c.631_632fs

1 paper

NM_000043.6

p.N206fs

c.616_617fs

1 paper

NM_000043.6

p.S212C

c.635C>G