Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.P2286_L2287del2

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.P2286_L2287del2
c.6856_6860del6
Surrounding Variants
1 paper
NM_001304548.2
p.E2319G
c.6956A>G
1 paper
NM_001304548.2
p.K2321_E2323delFs
c.6962_6968del7
3 papers
NM_001304548.2
p.I2385N
c.7154T>A
1 paper
NM_001304548.2
p.E2399_E2415del0
c.7197_7244del48
1 paper
NM_001304548.2
p.K2410N
c.7230A>C
1 paper
NM_001304548.2
p.K2410N
c.7230A>T
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