Varaico: Literature-Extracted Genetic Variants

Gene:CCDC47
Variant:p.K189_E190delFs

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
2 papers
NM_020198.3
p.K189_E190delFs
c.567_570del4
Surrounding Variants
2 papers
NM_020198.3
p.E190K
c.568G>A
1 paper
NM_020198.3
p.E190fs
c.568_569fs
1 paper
NM_020198.3
p.S193I
c.578G>T
1 paper
NM_020198.3
p.N188fs
c.562_563fs
2 papers
NM_020198.3
p.N188delFs
c.563delT
1 paper
NM_020198.3
p.R212*
c.634C>T
1 paper
NM_020198.3
p.Q221*
c.661C>T
1 paper
NM_020198.3
p.R236Q
c.707G>A
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.L163R
c.488T>G
1 paper
NM_020198.3
p.R162R
c.486C>G
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