Varaico: Literature-Extracted Genetic Variants

MYH6

671 papers

RefSeq Summary

Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The...

Pfam Domains

Myosin_Naa 32–76UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 87–768UCSCMyosin head (motor domain)

Myosin_tail_1aa 845–1926UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 6

HGNC Previous Name

myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_002471.4

p.K1326_A1327Splc

c.3979-2A>C

Surrounding Variants

1 paper

NM_002471.4

p.K1326_A1327Splc

c.3979-1G>C

1 paper

NM_002471.4

p.A1327T

c.3979G>A

3 papers

NM_002471.4

p.A1327V

c.3980C>T

2 papers

NM_002471.4

p.K1326_A1327Splc

c.3979-7T>C

1 paper

NM_002471.4

p.K1328N

c.3984G>C

2 papers

NM_002471.4

p.A1332V

c.3995C>T

1 paper

NM_002471.4

p.H1333N

c.3997C>A

1 paper

NM_002471.4

p.Q1336delFs

c.4008delC

7 papers

NM_002471.4

p.S1337L

c.4010C>T

1 paper

NM_002471.4

p.S1337*

c.4010C>A

1 paper

NM_002471.4

p.S1337S

c.4011G>A

1 paper

NM_002471.4

p.R1339W

c.4015C>T