Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.G6D

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.G6D
c.17G>A
Surrounding Variants
1 paper
NM_001304548.2
p.L8I
c.22C>A
1 paper
NM_001304548.2
p.M1T
c.2T>C
1 paper
NM_001304548.2
p.M1insFs
c.3dupG
1 paper
NM_001304548.2
p.M1insFs
c.2dupT
1 paper
NM_001304548.2
p.M1delFs
c.2delT
1 paper
NM_001304548.2
p.G15D
c.44G>A
1 paper
NM_001304548.2
p.M19V
c.55A>G
1 paper
NM_001304548.2
p.S25_L26delFs
c.75_76delCC
1 paper
NM_001304548.2
p.V27I
c.79G>A
1 paper
NM_001304548.2
p.S34L
c.101C>T
1 paper
NM_001304548.2
p.V42L
c.124G>C
1 paper
NM_001304548.2
p.K48_F49del1
c.143_145delAGT
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."