Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.R429C

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.R429C
c.1285C>T
Surrounding Variants
1 paper
NM_001304548.2
p.R429H
c.1286G>A
1 paper
NM_001304548.2
p.P423insFs
c.1267_1268insTG
1 paper
NM_001304548.2
p.P423A
c.1267C>G
1 paper
NM_001304548.2
p.P417L
c.1250C>T
1 paper
NM_001304548.2
p.Q412delFs
c.1235delA
2 papers
NM_001304548.2
p.T446M
c.1337C>T
1 paper
NM_001304548.2
p.Y447*
c.1341C>A
1 paper
NM_001304548.2
p.A453E
c.1358C>A
1 paper
NM_001304548.2
p.S392G
c.1174A>G
1 paper
NM_001304548.2
p.D379H
c.1135G>C
2 papers
NM_001304548.2
p.S377R
c.1131T>A
2 papers
NM_001304548.2
p.S377R
c.1131T>G
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."