Varaico: Literature-Extracted Genetic Variants

Gene:CCDC34
Variant:p.K185T

CCDC34

81 papers

Pfam Domains

CCDC34aa 141–321UCSCCoiled-coil domain-containing protein 34

Gene Aliases

HGNC Name

coiled-coil domain containing 34

HGNC Alias Symbols

NY-REN-41; L15; RAMA3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_030771.2
p.K185T
c.554A>C
Surrounding Variants
2 papers
NM_030771.2
p.A188insFs
c.562_563insT
1 paper
NM_030771.2
p.L168_N169delFs
c.503_507del5
1 paper
NM_030771.2
p.L168fs
c.502_503fs
1 paper
NM_030771.2
p.Q202_K203Splc
c.606+339T>A
1 paper
NM_030771.2
p.L165insFs
c.494dupT
2 papers
NM_030771.2
p.R159W
c.475C>T
1 paper
NM_030771.2
p.R159G
c.475C>G
1 paper
NM_030771.2
p.R157H
c.470G>A
1 paper
NM_030771.2
p.E156del1
c.466_467delTTC
1 paper
NM_030771.2
p.E155Q
c.463G>C
1 paper
NM_030771.2
p.R136C
c.406C>T
1 paper
NM_030771.2
p.E131K
c.391G>A
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