Varaico: Literature-Extracted Genetic Variants

Gene:CCDC47
Variant:p.N77K

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.N77K
c.231C>G
Surrounding Variants
1 paper
NM_020198.3
p.N77K
c.231C>A
1 paper
NM_020198.3
p.R56W
c.166C>T
1 paper
NM_020198.3
p.E47K
c.139G>A
1 paper
NM_020198.3
p.Y34_A40delFs
c.100_118del19
1 paper
NM_020198.3
p.N37D
c.109A>G
1 paper
NM_020198.3
p.D35E
c.105T>G
1 paper
NM_020198.3
p.D35E
c.105T>A
1 paper
NM_020198.3
p.D24Y
c.70G>T
1 paper
NM_020198.3
p.L141fs
c.421_422fs
1 paper
NM_020198.3
p.L141insFs
c.422dupT
1 paper
NM_020198.3
p.V143fs
c.427_428fs
1 paper
NM_020198.3
p.T144S
c.430A>T
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