Varaico: Literature-Extracted Genetic Variants

Gene:CCDC136
Variant:p.V34L

CCDC136

74 papers

Pfam Domains

CCDC136_middleaa 1–417UCSCCCDC136 coiled-coil domain

Gene Aliases

HGNC Name

coiled-coil domain containing 136

HGNC Alias Symbols

KIAA1793; NAG6; DKFZP434G156

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022742.5
p.V34L
c.100G>C
Surrounding Variants
1 paper
NM_022742.5
p.V34L
c.100G>T
1 paper
NM_022742.5
p.E30V
c.89A>T
2 papers
NM_022742.5
p.G38D
c.113G>A
1 paper
NM_022742.5
p.E32del1
c.94_95delGAA
1 paper
NM_022742.5
p.G41R
c.121G>C
1 paper
NM_022742.5
p.L43L
c.129G>A
2 papers
NM_022742.5
p.E22_E23delFs
c.66_67delGG
2 papers
NM_022742.5
p.N46_L51del6
c.136_152del18
1 paper
NM_022742.5
p.K47M
c.140A>T
1 paper
NM_022742.5
p.G50V
c.149G>T
1 paper
NM_022742.5
p.E17G
c.50A>G
1 paper
NM_022742.5
p.S52G
c.154A>G
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