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.T46P

c.136A>C

Surrounding Variants

1 paper

NM_000043.6

p.T46T

c.138T>A

4 papers

NM_000043.6

p.Q47*

c.139C>T

1 paper

NM_000043.6

p.E45K

c.133G>A

5 papers

NM_000043.6

p.E45*

c.133G>T

2 papers

NM_000043.6

p.T46_Q47del2

c.136_140del6

1 paper

NM_000043.6

p.Q47Q

c.141G>A

1 paper

NM_000043.6

p.N48fs

c.142_143fs

1 paper

NM_000043.6

p.V44I

c.130G>A

1 paper

NM_000043.6

p.V44L

c.130G>C

3 papers

NM_000043.6

p.T43A

c.127A>G

1 paper

NM_000043.6

p.L49L

c.145T>C

1 paper

NM_000043.6

p.L49*

c.146T>A