Varaico: Literature-Extracted Genetic Variants

Gene:MAMSTR
Variant:p.P384L

MAMSTR

42 papers

Pfam Domains

SAPaa 171–203UCSCSAP domain
SAPaa 171–203UCSCSAP domain
SAPaa 171–203UCSCSAP domain

Gene Aliases

HGNC Name

MEF2 activating motif and SAP domain containing transcriptional regulator

HGNC Alias Symbols

MASTR; FLJ36070

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001130915.2
p.P384L
c.1151C>T
Surrounding Variants
1 paper
NM_001130915.2
p.P389S
c.1165C>T
1 paper
NM_001130915.2
p.P369S
c.1105C>T
1 paper
NM_001130915.2
p.S354*
c.1061C>G
1 paper
NM_001130915.2
p.S354*
c.1061C>A
1 paper
NM_001130915.2
p.P340S
c.1018C>T
1 paper
NM_001130915.2
p.P320S
c.958C>T
1 paper
NM_001130915.2
p.P272A
c.814C>G
1 paper
NM_001130915.2
p.S248fs
c.742_743fs
1 paper
NM_001130915.2
p.D218H
c.652G>C
1 paper
NM_001130915.2
p.P214A
c.640C>G
1 paper
NM_001130915.2
p.G188V
c.563G>T
1 paper
NM_001130915.2
p.K171E
c.511A>G
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