Varaico: Literature-Extracted Genetic Variants

Gene:CFAP300
Variant:p.A47S

CFAP300

45 papers

Pfam Domains

CFAP300aa 11–259UCSCCilia- and flagella-associated protein 300

Gene Aliases

HGNC Name

cilia and flagella associated protein 300

HGNC Previous Symbol

C11orf70

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032930.3
p.A47S
c.139G>T
Surrounding Variants
6 papers
NM_032930.3
p.Q52*
c.154C>T
1 paper
NM_032930.3
p.Q55*
c.163C>T
1 paper
NM_032930.3
p.V63D
c.188T>A
1 paper
NM_032930.3
p.W37Splc
c.111-34C>T
1 paper
NM_032930.3
p.M64_A65Splc
c.192+59A>C
1 paper
NM_032930.3
p.W37Splc
c.110+16A>G
1 paper
NM_032930.3
p.R33fs
c.97_98fs
4 papers
NM_032930.3
p.R33_Q36del0
c.98_106del9
1 paper
NM_032930.3
p.M1insFs
c.2dupT
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."