Varaico: Literature-Extracted Genetic Variants

Gene:MRTFB
Variant:p.P298L

MRTFB

82 papers

Pfam Domains

RPELaa 41–64UCSCRPEL repeat
RPELaa 85–108UCSCRPEL repeat
RPELaa 85–108UCSCRPEL repeat
RPELaa 129–152UCSCRPEL repeat
SAPaa 388–424UCSCSAP domain

Gene Aliases

HGNC Name

myocardin related transcription factor B

HGNC Previous Symbol

MKL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001308142.2
p.P298L
c.893C>T
Surrounding Variants
1 paper
NM_001308142.2
p.R299W
c.895C>T
1 paper
NM_001308142.2
p.V300L
c.898G>C
1 paper
NM_001308142.2
p.V300L
c.898G>T
1 paper
NM_001308142.2
p.R289C
c.865C>T
2 papers
NM_001308142.2
p.H288Q
c.864C>A
2 papers
NM_001308142.2
p.H288Q
c.864C>G
1 paper
NM_001308142.2
p.D286_K287insFs
c.858_859insCC
1 paper
NM_001308142.2
p.Q278*
c.832C>T
1 paper
NM_001308142.2
p.R328C
c.982C>T
1 paper
NM_001308142.2
p.Q334del1
c.1000_1001delCAG
1 paper
NM_001308142.2
p.Q334H
c.1002G>C
1 paper
NM_001308142.2
p.Q334H
c.1002G>T
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