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.E49Splc

c.145+8A>G

Surrounding Variants

1 paper

NM_001010985.3

p.L43fs

c.127_128fs

1 paper

NM_001010985.3

p.V9A

c.26T>C

1 paper

NM_001010985.3

p.A3E

c.8C>A

1 paper

NM_001010985.3

p.E2*

c.4G>T

1 paper

NM_001010985.3

p.M1fs

c.1_2fs

1 paper

NM_001010985.3

p.E49Splc

c.146-39G>A

1 paper

NM_001010985.3

p.P51L

c.152C>T

1 paper

NM_001010985.3

p.L59L

c.177G>A

1 paper

NM_001010985.3

p.Q61K

c.181C>A

3 papers

NM_001010985.3

p.R65W

c.193C>T

3 papers

NM_001010985.3

p.V71G

c.212T>G

1 paper

NM_001010985.3

p.Q78_G79Splc

c.234+44G>A