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

13 papers

NM_000043.6

p.L224*

c.671T>G

Surrounding Variants

13 papers

NM_000043.6

p.L224*

c.671T>A

2 papers

NM_000043.6

p.L224L

c.670T>C

1 paper

NM_000043.6

p.L224fs

c.670_671fs

1 paper

NM_000043.6

p.S225T

c.673T>A

1 paper

NM_000043.6

p.S225Y

c.674C>A

1 paper

NM_000043.6

p.N223fs

c.667_668fs

3 papers

NM_000043.6

p.N223H

c.667A>C

3 papers

NM_000043.6

p.N223fs

c.667_668fs

1 paper

NM_000043.6

p.N223_S225delFs

c.668_675del8

4 papers

NM_000043.6

p.D226N

c.676G>A

1 paper

NM_000043.6

p.D226Y

c.676G>T

8 papers

NM_000043.6

p.D226Splc

c.676+1G>A