Varaico: Literature-Extracted Genetic Variants

Gene:CCDC47
Variant:p.R162R

CCDC47

44 papers

Pfam Domains

CCDC47aa 135–467UCSCPAT complex subunit CCDC47

Gene Aliases

HGNC Name

coiled-coil domain containing 47

HGNC Alias Symbol

GK001

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020198.3
p.R162R
c.486C>G
Surrounding Variants
1 paper
NM_020198.3
p.L163R
c.488T>G
1 paper
NM_020198.3
p.I154V
c.460A>G
1 paper
NM_020198.3
p.T144S
c.431C>G
1 paper
NM_020198.3
p.T144N
c.431C>A
1 paper
NM_020198.3
p.T144S
c.430A>T
1 paper
NM_020198.3
p.T180_L181insFs
c.540_543dup4
1 paper
NM_020198.3
p.V182fs
c.544_545fs
1 paper
NM_020198.3
p.V143fs
c.427_428fs
1 paper
NM_020198.3
p.L141insFs
c.422dupT
1 paper
NM_020198.3
p.L141fs
c.421_422fs
1 paper
NM_020198.3
p.N77K
c.231C>G
1 paper
NM_020198.3
p.N77K
c.231C>A
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