Varaico: Literature-Extracted Genetic Variants

MYH3

291 papers

RefSeq Summary

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH)...

Pfam Domains

Myosin_Naa 33–77UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 88–767UCSCMyosin head (motor domain)

Myosin_tail_1aa 844–1925UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 3

HGNC Alias Symbols

MYHC-EMB; MYHSE1; HEMHC; SMHCE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002470.4

p.A1637delFs

c.4910delG

Surrounding Variants

12 papers

NM_002470.4

p.A1637V

c.4910C>T

1 paper

NM_002470.4

p.A1638fs

c.4912_4913fs

1 paper

NM_002470.4

p.I1626M

c.4878C>G

1 paper

NM_002470.4

p.L1651P

c.4952T>C

1 paper

NM_002470.4

p.D1622V

c.4865A>T

7 papers

NM_002470.4

p.D1622A

c.4865A>C

3 papers

NM_002470.4

p.R1614W

c.4840C>T

1 paper

NM_002470.4

p.R1609K

c.4826G>A

1 paper

NM_002470.4

p.A1604T

c.4810G>A

2 papers

NM_002470.4

p.Q1592*

c.4774C>T

1 paper

NM_002470.4

p.Y1591del1

c.4771_4773delGTA

2 papers

NM_002470.4

p.L1587P

c.4760T>C