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

2 papers

NM_000043.6

p.Q276H

c.828A>C

Surrounding Variants

2 papers

NM_000043.6

p.Q276H

c.828A>T

1 paper

NM_000043.6

p.L277fs

c.829_830fs

2 papers

NM_000043.6

p.L277fs

c.829_830fs

1 paper

NM_000043.6

p.Q276K

c.826C>A

6 papers

NM_000043.6

p.Q276*

c.826C>T

2 papers

NM_000043.6

p.L277R

c.830T>G

1 paper

NM_000043.6

p.L277L

c.831G>C

1 paper

NM_000043.6

p.V275D

c.824T>A

1 paper

NM_000043.6

p.V275fs

c.823_824fs

1 paper

NM_000043.6

p.V275F

c.823G>T

1 paper

NM_000043.6

p.K274I

c.821A>T

1 paper

NM_000043.6

p.R279C

c.835C>T