Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.S392G

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.S392G
c.1174A>G
Surrounding Variants
1 paper
NM_001304548.2
p.D379H
c.1135G>C
2 papers
NM_001304548.2
p.S377R
c.1131T>A
2 papers
NM_001304548.2
p.S377R
c.1131T>G
1 paper
NM_001304548.2
p.K378_D379del2
c.1132_1136del6
2 papers
NM_001304548.2
p.S377R
c.1129A>C
1 paper
NM_001304548.2
p.D357insFs
c.1069_1070insAC
1 paper
NM_001304548.2
p.Q335_P336del2
c.1003_1007del6
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.Q412delFs
c.1235delA
1 paper
NM_001304548.2
p.P417L
c.1250C>T
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