Varaico: Literature-Extracted Genetic Variants

Gene:CCDC47
Variant:p.L359V

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.L359V
c.1075C>G
Surrounding Variants
1 paper
NM_020198.3
p.T355del1
c.1063_1064delAGT
1 paper
NM_020198.3
p.N364Y
c.1090A>T
1 paper
NM_020198.3
p.V365L
c.1093G>T
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.V365L
c.1093G>T
1 paper
NM_020198.3
p.V365L
c.1093G>C
1 paper
NM_020198.3
p.A378S
c.1132G>T
1 paper
NM_020198.3
p.L379Q
c.1136T>A
2 papers
NM_020198.3
p.L382fs
c.1144_1145fs
2 papers
NM_020198.3
p.L382delFs
c.1145delA
2 papers
NM_020198.3
p.S389fs
c.1165_1166fs
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