Varaico: Literature-Extracted Genetic Variants

MYBPHL

58 papers

RefSeq Summary

This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012].

Pfam Domains

I-setaa 57–142UCSCImmunoglobulin I-set domain

fn3aa 147–236UCSCFibronectin type III domain

I-setaa 261–350UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

myosin binding protein H like

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001010985.3

p.S189S

c.567C>T

Surrounding Variants

1 paper

NM_001010985.3

p.S189F

c.566C>T

1 paper

NM_001010985.3

p.G190_L191Splc

c.570+33G>A

1 paper

NM_001010985.3

p.P168P

c.504G>T

1 paper

NM_001010985.3

p.V155V

c.465G>C

1 paper

NM_001010985.3

p.T194T

c.582G>A

1 paper

NM_001010985.3

p.G147V

c.440G>T

1 paper

NM_001010985.3

p.P146delFs

c.438delT

1 paper

NM_001010985.3

p.P146fs

c.436_437fs

1 paper

NM_001010985.3

p.H200H

c.600C>T

1 paper

NM_001010985.3

p.V206I

c.616G>A

1 paper

NM_001010985.3

p.A216D

c.647C>A

1 paper

NM_001010985.3

p.R218H

c.653G>A