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

2 papers

NM_000043.6

p.L52L

c.154C>T

Surrounding Variants

1 paper

NM_000043.6

p.G51G

c.153C>T

1 paper

NM_000043.6

p.G51D

c.152G>A

1 paper

NM_000043.6

p.G51V

c.152G>T

1 paper

NM_000043.6

p.L52_F58del7

c.154_173del21

1 paper

NM_000043.6

p.H53Y

c.157C>T

2 papers

NM_000043.6

p.G51C

c.151G>T

2 papers

NM_000043.6

p.E50K

c.148G>A

2 papers

NM_000043.6

p.H54R

c.161A>G

1 paper

NM_000043.6

p.H54_D55delFs

c.162_163delTG

1 paper

NM_000043.6

p.D55_C63del9

c.163_188del27

1 paper

NM_000043.6

p.L49*

c.146T>A

1 paper

NM_000043.6

p.D55H

c.163G>C