Varaico: Literature-Extracted Genetic Variants

Gene:MARCKS
Variant:p.E280A

MARCKS

132 papers

RefSeq Summary

The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or bindi...

Pfam Domains

MARCKSaa 2–329UCSCMARCKS family

Gene Aliases

HGNC Name

myristoylated alanine rich protein kinase C substrate

HGNC Previous Symbol

MACS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002356.7
p.E280A
c.839A>C
Surrounding Variants
1 paper
NM_002356.7
p.A284P
c.850G>C
1 paper
NM_002356.7
p.G286W
c.856G>T
1 paper
NM_002356.7
p.A274V
c.821C>T
1 paper
NM_002356.7
p.A298delFs
c.893delC
4 papers
NM_002356.7
p.P301S
c.901C>T
1 paper
NM_002356.7
p.E236E
c.708G>A
1 paper
NM_002356.7
p.E324K
c.970G>A
1 paper
NM_002356.7
p.A325insFs
c.974dupC
1 paper
NM_002356.7
p.A325fs
c.973_974fs
1 paper
NM_002356.7
p.G232D
c.695G>A
1 paper
NM_002356.7
p.G212V
c.635G>T
1 paper
NM_002356.7
p.A202V
c.605C>T
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