Varaico: Literature-Extracted Genetic Variants

Gene:CCDC157
Variant:p.R442H

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.R442H
c.1325G>A
Surrounding Variants
1 paper
NM_001017437.5
p.R436C
c.1306C>T
1 paper
NM_001017437.5
p.A435D
c.1304C>A
1 paper
NM_001017437.5
p.A419T
c.1255G>A
1 paper
NM_001017437.5
p.Q382fs
c.1144_1145fs
1 paper
NM_001017437.5
p.Q382delFs
c.1144delC
1 paper
NM_001017437.5
p.A378S
c.1132G>T
1 paper
NM_001017437.5
p.E363A
c.1088A>C
1 paper
NM_001017437.5
p.R469W
c.1405C>T
1 paper
NM_001017437.5
p.R325Q
c.974G>A
1 paper
NM_001017437.5
p.Q316E
c.946C>G
1 paper
NM_001017437.5
p.R481C
c.1441C>T
1 paper
NM_001017437.5
p.V482M
c.1444G>A
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