Varaico: Literature-Extracted Genetic Variants

Gene:MYBPH
Variant:p.P47T

MYBPH

208 papers

Pfam Domains

fn3aa 72–158UCSCFibronectin type III domain
I-setaa 175–263UCSCImmunoglobulin I-set domain
fn3aa 268–357UCSCFibronectin type III domain
I-setaa 382–471UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

myosin binding protein H

HGNC Previous Name

myosin-binding protein H

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004997.3
p.P47T
c.139C>A
Surrounding Variants
2 papers
NM_004997.3
p.Q48L
c.143A>T
1 paper
NM_004997.3
p.P50H
c.149C>A
1 paper
NM_004997.3
p.Q43L
c.128A>T
1 paper
NM_004997.3
p.Q43R
c.128A>G
1 paper
NM_004997.3
p.E42V
c.125A>T
1 paper
NM_004997.3
p.P52T
c.154C>A
1 paper
NM_004997.3
p.E41G
c.122A>G
1 paper
NM_004997.3
p.R40T
c.119G>C
1 paper
NM_004997.3
p.T56P
c.166A>C
1 paper
NM_004997.3
p.T59P
c.175A>C
1 paper
NM_004997.3
p.E32*
c.94G>T
1 paper
NM_004997.3
p.G31R
c.91G>C
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