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.D90E

c.270T>A

Surrounding Variants

1 paper

NM_001010985.3

p.D90E

c.270T>G

2 papers

NM_001010985.3

p.R102W

c.304C>T

3 papers

NM_001010985.3

p.R102Q

c.305G>A

1 paper

NM_001010985.3

p.G79S

c.235G>A

1 paper

NM_001010985.3

p.E105_Q106insFs

c.315_316insC

1 paper

NM_001010985.3

p.R117C

c.349C>T

1 paper

NM_001010985.3

p.Q124P

c.371A>C

1 paper

NM_001010985.3

p.G131G

c.393G>C

1 paper

NM_001010985.3

p.E144Splc

c.430+1G>A

1 paper

NM_001010985.3

p.E144Splc

c.430+4C>T

1 paper

NM_001010985.3

p.P146fs

c.436_437fs

1 paper

NM_001010985.3

p.P146delFs

c.438delT