Varaico: Literature-Extracted Genetic Variants

Gene:CCDC124
Variant:p.V136L

CCDC124

22 papers

Pfam Domains

Ccdc124aa 131–214UCSCCoiled-coil domain-containing protein 124 /Oxs1

Gene Aliases

HGNC Name

coiled-coil domain containing 124

HGNC Alias Symbols

Lso2; oxs1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001136203.2
p.V136L
c.406G>T
Surrounding Variants
1 paper
NM_001136203.2
p.V136L
c.406G>C
1 paper
NM_001136203.2
p.V142M
c.424G>A
1 paper
NM_001136203.2
p.A150T
c.448G>A
1 paper
NM_001136203.2
p.A117Splc
c.350-1G>A
1 paper
NM_001136203.2
p.A157V
c.470C>T
1 paper
NM_001136203.2
p.P182L
c.545C>T
1 paper
NM_001136203.2
p.S194S
c.582G>A
1 paper
NM_001136203.2
p.R206C
c.616C>T
2 papers
NM_001136203.2
p.N220S
c.659A>G
1 paper
NM_001136203.2
p.K223M
c.668A>T
1 paper
NM_001136203.2
p.T103A
c.307A>G
1 paper
NM_001136203.2
p.T96A
c.286A>G
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