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

3 papers

NM_001382347.1

p.L116L

c.346C>T

Surrounding Variants

1 paper

NM_001382347.1

p.E121G

c.362A>G

1 paper

NM_001382347.1

p.Y127N

c.379T>A

1 paper

NM_001382347.1

p.G104R

c.310G>C

1 paper

NM_001382347.1

p.S128R

c.382A>C

1 paper

NM_001382347.1

p.S128R

c.384T>G

1 paper

NM_001382347.1

p.S128R

c.384T>A

2 papers

NM_001382347.1

p.D134Y

c.400G>T

1 paper

NM_001382347.1

p.D134insFs

c.401dupA

1 paper

NM_001382347.1

p.D136H

c.406G>C

1 paper

NM_001382347.1

p.D136A

c.407A>C

1 paper

NM_001382347.1

p.H138Q

c.414T>G

1 paper

NM_001382347.1

p.H138Q

c.414T>A