Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.C762_V763delFs

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.C762_V763delFs
c.2286_2287delTG
Surrounding Variants
1 paper
NM_001304548.2
p.G759A
c.2276G>C
1 paper
NM_001304548.2
p.T768S
c.2302A>T
1 paper
NM_001304548.2
p.T768S
c.2303C>G
1 paper
NM_001304548.2
p.S754F
c.2261C>T
1 paper
NM_001304548.2
p.Q793*
c.2377C>T
1 paper
NM_001304548.2
p.L803Q
c.2408T>A
1 paper
NM_001304548.2
p.L803L
c.2409A>G
1 paper
NM_001304548.2
p.T805_M812del8
c.2413_2435del24
1 paper
NM_001304548.2
p.A842T
c.2524G>A
1 paper
NM_001304548.2
p.L851P
c.2552T>C
1 paper
NM_001304548.2
p.N854delFs
c.2561_2562delAT
1 paper
NM_001304548.2
p.M865I
c.2595G>A
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