Varaico: Literature-Extracted Genetic Variants

MYH8

220 papers

RefSeq Summary

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonid...

Pfam Domains

Myosin_Naa 35–79UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 90–769UCSCMyosin head (motor domain)

Myosin_tail_1aa 846–1927UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 8

HGNC Alias Symbols

MyHC-peri; MyHC-pn

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002472.3

p.E1352_E1353delFs

c.4054_4057del4

Surrounding Variants

3 papers

NM_002472.3

p.E1353K

c.4057G>A

1 paper

NM_002472.3

p.E1348K

c.4042G>A

1 paper

NM_002472.3

p.Q1361*

c.4081C>T

1 paper

NM_002472.3

p.R1362S

c.4086G>T

1 paper

NM_002472.3

p.R1362S

c.4086G>C

1 paper

NM_002472.3

p.D1344H

c.4030G>C

1 paper

NM_002472.3

p.C1343Y

c.4028G>A

1 paper

NM_002472.3

p.A1367T

c.4099G>A

1 paper

NM_002472.3

p.K1327_A1328Splc

c.3982-3C>T

1 paper

NM_002472.3

p.I1383V

c.4147A>G

1 paper

NM_002472.3

p.R1385C

c.4153C>T

1 paper

NM_002472.3

p.L1304V

c.3910C>G