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

9 papers

NM_001010985.3

p.R255*

c.763C>T

Surrounding Variants

1 paper

NM_001010985.3

p.D256V

c.767A>T

3 papers

NM_001010985.3

p.V246I

c.736G>A

1 paper

NM_001010985.3

p.P266L

c.797C>T

11 papers

NM_001010985.3

p.D269N

c.805G>A

1 paper

NM_001010985.3

p.T271fs

c.811_812fs

1 paper

NM_001010985.3

p.T271delFs

c.812_813delAG

1 paper

NM_001010985.3

p.V273A

c.818T>C

1 paper

NM_001010985.3

p.G275S

c.823G>A

1 paper

NM_001010985.3

p.T278fs

c.832_833fs

1 paper

NM_001010985.3

p.C283Y

c.848G>A

1 paper

NM_001010985.3

p.R285P

c.854G>C

1 paper

NM_001010985.3

p.R285H

c.854G>A