Varaico: Literature-Extracted Genetic Variants

Gene:CCDC157
Variant:p.Q501_E502Splc

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.Q501_E502Splc
c.1504-6T>C
Surrounding Variants
1 paper
NM_001017437.5
p.Q501_E502Splc
c.1504-2A>G
1 paper
NM_001017437.5
p.A517V
c.1550C>T
1 paper
NM_001017437.5
p.R530Q
c.1589G>A
1 paper
NM_001017437.5
p.R498G
c.1492A>G
1 paper
NM_001017437.5
p.V482M
c.1444G>A
1 paper
NM_001017437.5
p.R481C
c.1441C>T
1 paper
NM_001017437.5
p.R469W
c.1405C>T
1 paper
NM_001017437.5
p.D579V
c.1736A>T
1 paper
NM_001017437.5
p.M581V
c.1741A>G
1 paper
NM_001017437.5
p.R442H
c.1325G>A
1 paper
NM_001017437.5
p.R436C
c.1306C>T
1 paper
NM_001017437.5
p.R591C
c.1771C>T
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