Varaico: Literature-Extracted Genetic Variants

MYO5A

327 papers

RefSeq Summary

This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorag...

Pfam Domains

Myosin_headaa 71–751UCSCMyosin head (motor domain)

IQaa 767–787UCSCIQ calmodulin-binding motif

IQaa 790–810UCSCIQ calmodulin-binding motif

IQaa 815–835UCSCIQ calmodulin-binding motif

IQaa 838–858UCSCIQ calmodulin-binding motif

IQaa 863–883UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

myosin VA

HGNC Previous Symbol

MYH12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001382347.1

p.P294L

c.881C>T

Surrounding Variants

1 paper

NM_001382347.1

p.S293G

c.877A>G

1 paper

NM_001382347.1

p.Y287fs

c.859_860fs

1 paper

NM_001382347.1

p.M305K

c.914T>A

1 paper

NM_001382347.1

p.T308I

c.923C>T

2 papers

NM_001382347.1

p.Q310insFs

c.929_930insC

1 paper

NM_001382347.1

p.C312Y

c.935G>A

1 paper

NM_001382347.1

p.G280Splc

c.838+1G>A

5 papers

NM_001382347.1

p.R278*

c.832C>T

1 paper

NM_001382347.1

p.L271I

c.811T>A

1 paper

NM_001382347.1

p.A269T

c.805G>A

1 paper

NM_001382347.1

p.Y263*

c.789T>G

1 paper

NM_001382347.1

p.Y263*

c.789T>A