Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.C104R

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
3 papers
NM_000043.6
p.C104R
c.310T>C
Surrounding Variants
1 paper
NM_000043.6
p.C104S
c.310T>A
4 papers
NM_000043.6
p.C104G
c.310T>G
2 papers
NM_000043.6
p.R103S
c.309A>C
1 paper
NM_000043.6
p.R103S
c.309A>T
2 papers
NM_000043.6
p.C104Y
c.311G>A
1 paper
NM_000043.6
p.C104S
c.311G>C
2 papers
NM_000043.6
p.C104insFs
c.312dupT
12 papers
NM_000043.6
p.R103K
c.308G>A
2 papers
NM_000043.6
p.R105*
c.313A>T
1 paper
NM_000043.6
p.R102S
c.306A>T
2 papers
NM_000043.6
p.R105S
c.315A>C
2 papers
NM_000043.6
p.R105S
c.315A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."