Varaico: Literature-Extracted Genetic Variants

Gene:MYH7B
Variant:p.E382*

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.E382*
c.1144G>T
Surrounding Variants
1 paper
NM_020884.7
p.Q375*
c.1123C>T
1 paper
NM_020884.7
p.E373V
c.1118A>T
1 paper
NM_020884.7
p.L332L
c.996C>G
1 paper
NM_020884.7
p.E330G
c.989A>G
1 paper
NM_020884.7
p.D324V
c.971A>T
1 paper
NM_020884.7
p.H404Y
c.1210C>T
2 papers
NM_020884.7
p.R408C
c.1222C>T
1 paper
NM_020884.7
p.G410V
c.1229G>T
1 paper
NM_020884.7
p.V424_F425delFs
c.1272_1273delGT
1 paper
NM_020884.7
p.L450L
c.1348C>T
1 paper
NM_020884.7
p.L463P
c.1388T>C
1 paper
NM_020884.7
p.E469A
c.1406A>C
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