Varaico: Literature-Extracted Genetic Variants

Gene:MYBPH
Variant:p.I457R

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.I457R
c.1370T>G
Surrounding Variants
1 paper
NM_004997.3
p.A456S
c.1366G>T
1 paper
NM_004997.3
p.R442Q
c.1325G>A
1 paper
NM_004997.3
p.G435G
c.1305C>T
2 papers
NM_004997.3
p.P426L
c.1277C>T
1 paper
NM_004997.3
p.Q423Q
c.1269G>A
1 paper
NM_004997.3
p.K419*
c.1255A>T
1 paper
NM_004997.3
p.K417N
c.1251A>T
1 paper
NM_004997.3
p.K417N
c.1251A>C
1 paper
NM_004997.3
p.K417T
c.1250A>C
1 paper
NM_004997.3
p.S474L
c.1421C>T
1 paper
NM_004997.3
p.*478insFs
c.1433_1434insAA
3 papers
NM_004997.3
p.A389V
c.1166C>T
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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."