Varaico: Literature-Extracted Genetic Variants

Gene:CCDC73
Variant:p.E448fs

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
2 papers
NM_001008391.4
p.E448fs
c.1342_1343fs
Surrounding Variants
1 paper
NM_001008391.4
p.K447delFs
c.1341delT
1 paper
NM_001008391.4
p.E448fs
c.1342_1343fs
1 paper
NM_001008391.4
p.K447fs
c.1339_1340fs
1 paper
NM_001008391.4
p.E432D
c.1296G>T
1 paper
NM_001008391.4
p.E432D
c.1296G>C
1 paper
NM_001008391.4
p.Q418*
c.1252C>T
1 paper
NM_001008391.4
p.D459Splc
c.1376-7A>G
1 paper
NM_001008391.4
p.E464Q
c.1390G>C
1 paper
NM_001008391.4
p.S503S
c.1509G>A
1 paper
NM_001008391.4
p.R509T
c.1526G>C
1 paper
NM_001008391.4
p.I520K
c.1559T>A
1 paper
NM_001008391.4
p.D542E
c.1626T>G
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