Varaico: Literature-Extracted Genetic Variants

Gene:CCDC136
Variant:p.E195D

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.E195D
c.585G>C
Surrounding Variants
1 paper
NM_022742.5
p.E195D
c.585G>T
2 papers
NM_022742.5
p.I196_A201del6
c.586_602del18
1 paper
NM_022742.5
p.S198F
c.593C>T
1 paper
NM_022742.5
p.E193K
c.577G>A
1 paper
NM_022742.5
p.Y192*
c.576T>A
1 paper
NM_022742.5
p.Y192*
c.576T>G
1 paper
NM_022742.5
p.G190E
c.569G>A
2 papers
NM_022742.5
p.R187C
c.559C>T
1 paper
NM_022742.5
p.D184E
c.552C>A
1 paper
NM_022742.5
p.D184E
c.552C>G
1 paper
NM_022742.5
p.E183D
c.549A>C
1 paper
NM_022742.5
p.E183D
c.549A>T
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