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

4 papers

NM_000043.6

p.E272K

c.814G>A

Surrounding Variants

4 papers

NM_000043.6

p.E272G

c.815A>G

7 papers

NM_000043.6

p.Q273K

c.817C>A

5 papers

NM_000043.6

p.Q273*

c.817C>T

1 paper

NM_000043.6

p.Q273R

c.818A>G

4 papers

NM_000043.6

p.T270I

c.809C>T

5 papers

NM_000043.6

p.Q273H

c.819G>C

4 papers

NM_000043.6

p.Q273H

c.819G>T

1 paper

NM_000043.6

p.K274delFs

c.821delA

1 paper

NM_000043.6

p.K274E

c.820A>G

3 papers

NM_000043.6

p.A271del1

c.811_812delGCA

1 paper

NM_000043.6

p.K274I

c.821A>T

1 paper

NM_000043.6

p.T270_E272delFs

c.808_815del8