Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47

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
1–12 of 259 variants
5 papers
NM_001304548.2
p.R870Q
c.2609G>A
4 papers
NM_001304548.2
p.V236M
c.706G>A
4 papers
NM_001304548.2
p.V472M
c.1414G>A
4 papers
NM_001304548.2
p.R554C
c.1660C>T
4 papers
NM_001304548.2
p.P2890T
c.8668C>A
3 papers
NM_001304548.2
p.S1742G
c.5224A>G
3 papers
NM_001304548.2
p.I2385N
c.7154T>A
2 papers
NM_001304548.2
p.G6D
c.17G>A
2 papers
NM_001304548.2
p.R118W
c.352C>T
2 papers
NM_001304548.2
p.S377R
c.1129A>C
2 papers
NM_001304548.2
p.S377R
c.1131T>A
2 papers
NM_001304548.2
p.S377R
c.1131T>G
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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."