Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.R870Q

CFAP47

129 papers

RefSeq Summary

While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009].

Pfam Domains

CFAP47aa 1576–1716UCSCCilia- and flagella-associated protein 47 domain
Ig_CFAP47aa 2890–3032UCSCCFAP47-like, immunoglobulin-like domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 47

HGNC Previous Symbols

CXorf59; CXorf22; CXorf30; CHDC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001304548.2
p.R870Q
c.2609G>A
Surrounding Variants
1 paper
NM_001304548.2
p.R870L
c.2609G>T
1 paper
NM_001304548.2
p.M865I
c.2595G>A
1 paper
NM_001304548.2
p.M865I
c.2595G>C
1 paper
NM_001304548.2
p.M865I
c.2595G>T
1 paper
NM_001304548.2
p.N877S
c.2630A>G
2 papers
NM_001304548.2
p.R878C
c.2632C>T
1 paper
NM_001304548.2
p.N854delFs
c.2561_2562delAT
1 paper
NM_001304548.2
p.P889L
c.2666C>T
1 paper
NM_001304548.2
p.L851P
c.2552T>C
1 paper
NM_001304548.2
p.V890I
c.2668G>A
1 paper
NM_001304548.2
p.A842T
c.2524G>A
1 paper
NM_001304548.2
p.T805_M812del8
c.2413_2435del24
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."