Varaico: Literature-Extracted Genetic Variants

Gene:MYH7B
Variant:p.R575H

MYH7B

81 papers

RefSeq Summary

The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily....

Pfam Domains

Myosin_Naa 72–117UCSCMyosin N-terminal SH3-like domain
Myosin_headaa 128–815UCSCMyosin head (motor domain)

Gene Aliases

HGNC Name

myosin heavy chain 7B

HGNC Alias Symbols

KIAA1512; dJ756N5.1; MHC14; lncMYH7b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020884.7
p.R575H
c.1724G>A
Surrounding Variants
1 paper
NM_020884.7
p.P569del1
c.1705_1707delCCT
1 paper
NM_020884.7
p.N558N
c.1674C>T
2 papers
NM_020884.7
p.D557N
c.1669G>A
1 paper
NM_020884.7
p.F551V
c.1651T>G
1 paper
NM_020884.7
p.A546A
c.1638C>A
1 paper
NM_020884.7
p.M542T
c.1625T>C
1 paper
NM_020884.7
p.V609M
c.1825G>A
1 paper
NM_020884.7
p.G630R
c.1888G>C
1 paper
NM_020884.7
p.T653M
c.1958C>T
1 paper
NM_020884.7
p.S655P
c.1963T>C
1 paper
NM_020884.7
p.K664K
c.1992G>A
1 paper
NM_020884.7
p.A671V
c.2012C>T
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