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.L37L

c.109T>C

Surrounding Variants

2 papers

NM_000043.6

p.L37*

c.110T>A

1 paper

NM_000043.6

p.E36A

c.107A>C

1 paper

NM_000043.6

p.E36delFs

c.108delA

1 paper

NM_000043.6

p.R38K

c.113G>A

1 paper

NM_000043.6

p.K39fs

c.115_116fs

1 paper

NM_000043.6

p.L35M

c.103T>A

2 papers

NM_000043.6

p.L35L

c.103T>C

1 paper

NM_000043.6

p.K39R

c.116A>G

2 papers

NM_000043.6

p.G34E

c.101G>A

1 paper

NM_000043.6

p.G34A

c.101G>C

2 papers

NM_000043.6

p.T40A

c.118A>G

4 papers

NM_000043.6

p.G34*

c.100G>T