Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.Q564Q

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
1 paper
NM_001304548.2
p.Q564Q
c.1692A>G
Surrounding Variants
1 paper
NM_001304548.2
p.S565L
c.1694C>T
4 papers
NM_001304548.2
p.R554C
c.1660C>T
1 paper
NM_001304548.2
p.A552A
c.1656A>C
1 paper
NM_001304548.2
p.D582Y
c.1744G>T
1 paper
NM_001304548.2
p.P588L
c.1763C>T
1 paper
NM_001304548.2
p.S538L
c.1613C>T
1 paper
NM_001304548.2
p.A592delFs
c.1774_1775delGC
1 paper
NM_001304548.2
p.A593T
c.1777G>A
1 paper
NM_001304548.2
p.G534Splc
c.1601-3A>C
1 paper
NM_001304548.2
p.D599_R605delFs
c.1797_1813del17
1 paper
NM_001304548.2
p.H603_F604insG
c.1807_1811ins3
1 paper
NM_001304548.2
p.K521N
c.1563A>C
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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."