Varaico: Literature-Extracted Genetic Variants

Gene:CCDC157
Variant:p.D579V

CCDC157

46 papers

Pfam Domains

CCDC157_Naa 3–83UCSCCoiled-coil domain-containing protein 157 N-terminal domain
CCDC157_Naa 3–164UCSCCoiled-coil domain-containing protein 157 N-terminal domain

Gene Aliases

HGNC Name

coiled-coil domain containing 157

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001017437.5
p.D579V
c.1736A>T
Surrounding Variants
1 paper
NM_001017437.5
p.M581V
c.1741A>G
1 paper
NM_001017437.5
p.R591C
c.1771C>T
1 paper
NM_001017437.5
p.K619_L620Splc
c.1858-2A>T
1 paper
NM_001017437.5
p.Q668_R675del0
c.2002_2025del24
1 paper
NM_001017437.5
p.P682S
c.2044C>T
3 papers
NM_001017437.5
p.P690S
c.2068C>T
1 paper
NM_001017437.5
p.T695_S703del0
c.2084_2107del24
1 paper
NM_001017437.5
p.S698P
c.2092T>C
1 paper
NM_001017437.5
p.C702Y
c.2105G>A
1 paper
NM_001017437.5
p.G737G
c.2211C>T
1 paper
NM_001017437.5
p.R738W
c.2212C>T
1 paper
NM_001017437.5
p.R530Q
c.1589G>A
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