Varaico: Literature-Extracted Genetic Variants

Gene:CCER1
Variant:p.P94P

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.P94P
c.282A>C
Surrounding Variants
1 paper
NM_152638.4
p.R93H
c.278G>A
1 paper
NM_152638.4
p.R93G
c.277C>G
1 paper
NM_152638.4
p.S83_W88del6
c.247_263del18
1 paper
NM_152638.4
p.P105_Q107delFs
c.313_320del8
2 papers
NM_152638.4
p.C120fs
c.358_359fs
1 paper
NM_152638.4
p.S128P
c.382T>C
2 papers
NM_152638.4
p.C120_N130delFs
c.358_388del31
1 paper
NM_152638.4
p.W133G
c.397T>G
2 papers
NM_152638.4
p.R53*
c.157C>T
2 papers
NM_152638.4
p.R142H
c.425G>A
1 paper
NM_152638.4
p.R145C
c.433C>T
1 paper
NM_152638.4
p.G147G
c.441C>T
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