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.L229fs

c.685_686fs

Surrounding Variants

1 paper

NM_000043.6

p.L229M

c.685T>A

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

9 papers

NM_000043.6

p.L229*

c.686T>A

1 paper

NM_000043.6

p.L229_Y232Fs

c.686_695delinsGAGFs

4 papers

NM_000043.6

p.L229F

c.687G>C

3 papers

NM_000043.6

p.L229F

c.687G>T

3 papers

NM_000043.6

p.S230fs

c.688_689fs

1 paper

NM_000043.6

p.S230R

c.688A>C

2 papers

NM_000043.6

p.S230fs

c.688_689fs

1 paper

NM_000043.6

p.D228N

c.682G>A