Varaico: Literature-Extracted Genetic Variants

Gene:CCDC47
Variant:p.R271*

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
3 papers
NM_020198.3
p.R271*
c.811C>T
Surrounding Variants
1 paper
NM_020198.3
p.S280N
c.839G>A
1 paper
NM_020198.3
p.L295P
c.884T>C
1 paper
NM_020198.3
p.L302V
c.904C>G
1 paper
NM_020198.3
p.G311R
c.931G>C
1 paper
NM_020198.3
p.G311R
c.931G>A
1 paper
NM_020198.3
p.K327N
c.981G>T
1 paper
NM_020198.3
p.K327N
c.981G>C
1 paper
NM_020198.3
p.E345D
c.1035G>T
1 paper
NM_020198.3
p.E345D
c.1035G>C
1 paper
NM_020198.3
p.T355del1
c.1063_1064delAGT
1 paper
NM_020198.3
p.L359V
c.1075C>G
1 paper
NM_020198.3
p.N364Y
c.1090A>T
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