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.E194D

c.582A>T

Surrounding Variants

1 paper

NM_000043.6

p.V195L

c.583G>C

1 paper

NM_000043.6

p.V195_C199delFs

c.585_595del11

20 papers

NM_000043.6

p.E194K

c.580G>A

1 paper

NM_000043.6

p.E194fs

c.580_581fs

2 papers

NM_000043.6

p.E194fs

c.580_581fs

1 paper

NM_000043.6

p.V195_Q196insFs

c.585_586insA

1 paper

NM_000043.6

p.Q196delFs

c.586delC

1 paper

NM_000043.6

p.E194delFs

c.580delG

1 paper

NM_000043.6

p.Q196fs

c.586_587fs

2 papers

NM_000043.6

p.Q196*

c.586C>T

3 papers

NM_000043.6

p.Q196fs

c.586_587fs

3 papers

NM_000043.6

p.K193fs

c.577_578fs