Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.K521N

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.K521N
c.1563A>T
Surrounding Variants
1 paper
NM_001304548.2
p.K521N
c.1563A>C
2 papers
NM_001304548.2
p.F516C
c.1547T>G
1 paper
NM_001304548.2
p.Y513C
c.1538A>G
2 papers
NM_001304548.2
p.S505L
c.1514C>T
1 paper
NM_001304548.2
p.Q488*
c.1462C>T
1 paper
NM_001304548.2
p.F484L
c.1452C>A
1 paper
NM_001304548.2
p.F484L
c.1452C>G
1 paper
NM_001304548.2
p.F484L
c.1450T>C
1 paper
NM_001304548.2
p.G482delFs
c.1446delA
1 paper
NM_001304548.2
p.P478S
c.1432C>T
4 papers
NM_001304548.2
p.V472M
c.1414G>A
1 paper
NM_001304548.2
p.D471delFs
c.1413delT
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