Varaico: Literature-Extracted Genetic Variants

Gene:MYBPH
Variant:p.S235A

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.S235A
c.703T>G
Surrounding Variants
1 paper
NM_004997.3
p.F232S
c.695T>C
1 paper
NM_004997.3
p.G242R
c.724G>C
1 paper
NM_004997.3
p.G242A
c.725G>C
1 paper
NM_004997.3
p.E245K
c.733G>A
1 paper
NM_004997.3
p.T224I
c.671C>T
1 paper
NM_004997.3
p.R249H
c.746G>A
1 paper
NM_004997.3
p.V250M
c.748G>A
1 paper
NM_004997.3
p.L215P
c.644T>C
1 paper
NM_004997.3
p.I264S
c.791T>G
1 paper
NM_004997.3
p.E265V
c.794A>T
2 papers
NM_004997.3
p.K266I
c.797A>T
1 paper
NM_004997.3
p.P270fs
c.808_809fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."