Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.Q335_P336del2

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.Q335_P336del2
c.1003_1007del6
Surrounding Variants
1 paper
NM_001304548.2
p.L328P
c.983T>C
1 paper
NM_001304548.2
p.R314*
c.940A>T
1 paper
NM_001304548.2
p.L310I
c.928C>A
1 paper
NM_001304548.2
p.W282*
c.846G>A
1 paper
NM_001304548.2
p.W282*
c.845G>A
1 paper
NM_001304548.2
p.N281I
c.842A>T
1 paper
NM_001304548.2
p.R271H
c.812G>A
1 paper
NM_001304548.2
p.H269_R271delFs
c.805_812del8
1 paper
NM_001304548.2
p.K268E
c.802A>G
1 paper
NM_001304548.2
p.I267M
c.801T>G
1 paper
NM_001304548.2
p.R250K
c.749G>A
1 paper
NM_001304548.2
p.D249E
c.747C>A
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