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

1 paper

NM_002471.4

p.S1023F

c.3068C>T

Surrounding Variants

1 paper

NM_002471.4

p.N1020_L1022del3

c.3058_3065del9

1 paper

NM_002471.4

p.S1025fs

c.3073_3074fs

1 paper

NM_002471.4

p.V1014I

c.3040G>A

1 paper

NM_002471.4

p.D1035_L1036Splc

c.3105+5G>C

1 paper

NM_002471.4

p.D1035_L1036Splc

c.3105+5G>A

1 paper

NM_002471.4

p.L1009M

c.3025C>A

1 paper

NM_002471.4

p.D1035_L1036Splc

c.3105+9T>C

1 paper

NM_002471.4

p.Q1006H

c.3018G>T

1 paper

NM_002471.4

p.Q1006H

c.3018G>C

36 papers

NM_002471.4

p.A1004S

c.3010G>T

1 paper

NM_002471.4

p.A1004T

c.3010G>A

2 papers

NM_002471.4

p.E1003D

c.3009G>T