Varaico: Literature-Extracted Genetic Variants

Gene:CCDC73
Variant:p.M752I

CCDC73

67 papers

Pfam Domains

CCDC73aa 26–1072UCSCCoiled-coil domain-containing protein 73 family

Gene Aliases

HGNC Name

coiled-coil domain containing 73

HGNC Alias Symbol

NY-SAR-79

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001008391.4
p.M752I
c.2256G>T
Surrounding Variants
1 paper
NM_001008391.4
p.M752I
c.2256G>C
1 paper
NM_001008391.4
p.M752I
c.2256G>A
1 paper
NM_001008391.4
p.T747fs
c.2239_2240fs
1 paper
NM_001008391.4
p.S742N
c.2225G>A
1 paper
NM_001008391.4
p.N780N
c.2340C>T
1 paper
NM_001008391.4
p.P701S
c.2101C>T
1 paper
NM_001008391.4
p.S807fs
c.2419_2420fs
1 paper
NM_001008391.4
p.K810insFs
c.2429dupA
1 paper
NM_001008391.4
p.N811fs
c.2431_2432fs
1 paper
NM_001008391.4
p.S807_E815delFs
c.2419_2444del26
1 paper
NM_001008391.4
p.E820K
c.2458G>A
1 paper
NM_001008391.4
p.N824fs
c.2470_2471fs
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