Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.R118W

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
2 papers
NM_001304548.2
p.R118W
c.352C>T
Surrounding Variants
1 paper
NM_001304548.2
p.L120R
c.359T>G
1 paper
NM_001304548.2
p.T115I
c.344C>T
1 paper
NM_001304548.2
p.D114N
c.340G>A
1 paper
NM_001304548.2
p.D112delFs
c.335_336delAC
1 paper
NM_001304548.2
p.K111*
c.331A>T
1 paper
NM_001304548.2
p.D110D
c.330T>C
1 paper
NM_001304548.2
p.K126_T127delFs
c.378_379delAA
1 paper
NM_001304548.2
p.P109P
c.327T>A
1 paper
NM_001304548.2
p.T127delFs
c.381delA
1 paper
NM_001304548.2
p.E106G
c.317A>G
1 paper
NM_001304548.2
p.A103D
c.308C>A
1 paper
NM_001304548.2
p.T102K
c.305C>A
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."