Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.K48_F49del1

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.K48_F49del1
c.143_145delAGT
Surrounding Variants
1 paper
NM_001304548.2
p.V42L
c.124G>C
1 paper
NM_001304548.2
p.P61R
c.182C>G
1 paper
NM_001304548.2
p.S34L
c.101C>T
1 paper
NM_001304548.2
p.V64V
c.192G>A
1 paper
NM_001304548.2
p.H65Y
c.193C>T
1 paper
NM_001304548.2
p.R69C
c.205C>T
1 paper
NM_001304548.2
p.V27I
c.79G>A
1 paper
NM_001304548.2
p.S25_L26delFs
c.75_76delCC
1 paper
NM_001304548.2
p.R75_F76del2
c.223_227del6
1 paper
NM_001304548.2
p.R75Q
c.224G>A
1 paper
NM_001304548.2
p.M19V
c.55A>G
1 paper
NM_001304548.2
p.K77E
c.229A>G
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