Varaico: Literature-Extracted Genetic Variants

Gene:CCER1
Variant:p.L259V

CCER1

38 papers

Pfam Domains

CCER1aa 4–219UCSCCoiled-coil domain-containing glutamate-rich protein family 1

Gene Aliases

HGNC Name

coiled-coil glutamate rich protein 1

HGNC Previous Symbol

C12orf12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152638.4
p.L259V
c.775C>G
Surrounding Variants
1 paper
NM_152638.4
p.E248_S262del15
c.742_785del45
1 paper
NM_152638.4
p.L250fs
c.748_749fs
1 paper
NM_152638.4
p.L250delFs
c.748_749delAG
1 paper
NM_152638.4
p.P273Q
c.818C>A
1 paper
NM_152638.4
p.G239delFs
c.715_716delCC
1 paper
NM_152638.4
p.A235V
c.704C>T
2 papers
NM_152638.4
p.G232R
c.694G>C
2 papers
NM_152638.4
p.G232R
c.694G>A
2 papers
NM_152638.4
p.E287D
c.861G>T
2 papers
NM_152638.4
p.E287D
c.861G>C
1 paper
NM_152638.4
p.E293K
c.877G>A
1 paper
NM_152638.4
p.E224Q
c.670G>C
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