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.S20insFs

c.59dupC

Surrounding Variants

1 paper

NM_000043.6

p.S20P

c.58T>C

1 paper

NM_000043.6

p.S20Y

c.59C>A

1 paper

NM_000043.6

p.S19W

c.56C>G

1 paper

NM_000043.6

p.S19L

c.56C>T

2 papers

NM_000043.6

p.L18L

c.54A>G

4 papers

NM_000043.6

p.L18*

c.53T>A

4 papers

NM_000043.6

p.L18*

c.53T>G

1 paper

NM_000043.6

p.S19_K21del0

c.55_63del9

1 paper

NM_000043.6

p.L18delFs

c.52delT

1 paper

NM_000043.6

p.L18_S20delFs

c.52_58del7

3 papers

NM_000043.6

p.R17G

c.49A>G

1 paper

NM_000043.6

p.V23V

c.69T>A