Varaico: Literature-Extracted Genetic Variants

Gene:CFAP58
Variant:p.R59H

CFAP58

79 papers

Pfam Domains

CFAP58_CCaa 366–671UCSCCFAP58 central coiled coil

Gene Aliases

HGNC Name

cilia and flagella associated protein 58

HGNC Previous Symbols

C10orf80; CCDC147

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001008723.2
p.R59H
c.176G>A
Surrounding Variants
1 paper
NM_001008723.2
p.R59S
c.175C>A
1 paper
NM_001008723.2
p.A62D
c.185C>A
1 paper
NM_001008723.2
p.S53C
c.158C>G
1 paper
NM_001008723.2
p.V49fs
c.145_146fs
1 paper
NM_001008723.2
p.A48_M50delFs
c.144_148del5
1 paper
NM_001008723.2
p.A48_V49del1
c.143_145delCTG
1 paper
NM_001008723.2
p.E42V
c.125A>T
1 paper
NM_001008723.2
p.E42Q
c.124G>C
1 paper
NM_001008723.2
p.A76A
c.228G>T
1 paper
NM_001008723.2
p.K77E
c.229A>G
1 paper
NM_001008723.2
p.R40P
c.119G>C
1 paper
NM_001008723.2
p.Q89Q
c.267G>A
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