Varaico: Literature-Extracted Genetic Variants

Gene:CCDC57
Variant:p.Q121_L122del1

CCDC57

44 papers

Gene Aliases

HGNC Name

coiled-coil domain containing 57

HGNC Alias Symbols

FLJ00130; FLJ23754

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394669.1
p.Q121_L122del1
c.362_364delGCT
Surrounding Variants
1 paper
NM_001394669.1
p.R133H
c.398G>A
1 paper
NM_001394669.1
p.R73P
c.218G>C
1 paper
NM_001394669.1
p.K49_L50insFs
c.147_148ins5
1 paper
NM_001394669.1
p.K49_L50ins2
c.147_148ins6
1 paper
NM_001394669.1
p.Q47*
c.139C>T
1 paper
NM_001394669.1
p.I142T
c.425T>C
1 paper
NM_001394669.1
p.E147_Q148ins5
c.439_443ins15
1 paper
NM_001394669.1
p.E147_Q148ins6
c.439_443ins18
1 paper
NM_001394669.1
p.D164D
c.492C>T
1 paper
NM_001394669.1
p.G165S
c.493G>A
1 paper
NM_001394669.1
p.E173D
c.519A>T
1 paper
NM_001394669.1
p.E173D
c.519A>C
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