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.D55G

c.164A>G

Surrounding Variants

1 paper

NM_000043.6

p.D55H

c.163G>C

1 paper

NM_000043.6

p.D55Y

c.163G>T

1 paper

NM_000043.6

p.G56R

c.166G>C

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.G56V

c.167G>T

2 papers

NM_000043.6

p.Q57*

c.169C>T

1 paper

NM_000043.6

p.Q57Q

c.171A>G

1 paper

NM_000043.6

p.Q57H

c.171A>T

1 paper

NM_000043.6

p.H53Y

c.157C>T

1 paper

NM_000043.6

p.F58L

c.174C>G