Varaico: Literature-Extracted Genetic Variants

Gene:C2CD4A
Variant:p.P300L

C2CD4A

36 papers

Gene Aliases

HGNC Name

C2 calcium dependent domain containing 4A

HGNC Previous Symbol

FAM148A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_207322.3
p.P300L
c.899C>T
Surrounding Variants
1 paper
NM_207322.3
p.V297A
c.890T>C
1 paper
NM_207322.3
p.R314H
c.941G>A
1 paper
NM_207322.3
p.G266E
c.797G>A
1 paper
NM_207322.3
p.R335C
c.1003C>T
1 paper
NM_207322.3
p.E262fs
c.784_785fs
1 paper
NM_207322.3
p.L250V
c.748C>G
1 paper
NM_207322.3
p.G353S
c.1057G>A
1 paper
NM_207322.3
p.R354S
c.1060C>A
1 paper
NM_207322.3
p.G359R
c.1075G>C
1 paper
NM_207322.3
p.V236I
c.706G>A
1 paper
NM_207322.3
p.P231L
c.692C>T
2 papers
NM_207322.3
p.R225G
c.673C>G
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