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.D226D

c.678T>C

Surrounding Variants

3 papers

NM_000043.6

p.V227delFs

c.679delG

1 paper

NM_000043.6

p.D226fs

c.676_677fs

1 paper

NM_000043.6

p.V227I

c.679G>A

1 paper

NM_000043.6

p.D228_L229delFs

c.682_686del5

1 paper

NM_000043.6

p.D228N

c.682G>A

2 papers

NM_000043.6

p.D228fs

c.682_683fs

2 papers

NM_000043.6

p.D228fs

c.682_683fs

1 paper

NM_000043.6

p.D228D

c.684C>T

1 paper

NM_000043.6

p.L229delFs

c.686delT

2 papers

NM_000043.6

p.L229delFs

c.685_686delTT

1 paper

NM_000043.6

p.L229M

c.685T>A

1 paper

NM_000043.6

p.L229fs

c.685_686fs