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

1–12 of 401 variants

8 papers

NM_001382347.1

p.R1246C

c.3736C>T

5 papers

NM_001382347.1

p.R278*

c.832C>T

4 papers

NM_001382347.1

p.G440A

c.1319G>C

4 papers

NM_001382347.1

p.R609C

c.1825C>T

4 papers

NM_001382347.1

p.R826H

c.2477G>A

4 papers

NM_001382347.1

p.R831C

c.2491C>T

4 papers

NM_001382347.1

p.R1320S

c.3960A>T

4 papers

NM_001382347.1

p.R1320S

c.3960A>C

3 papers

NM_001382347.1

p.L116L

c.346C>T

3 papers

NM_001382347.1

p.F750L

c.2248T>C

3 papers

NM_001382347.1

p.F750L

c.2250C>G

3 papers

NM_001382347.1

p.F750L

c.2250C>A