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

4 papers

NM_001382347.1

p.R609C

c.1825C>T

Surrounding Variants

1 paper

NM_001382347.1

p.R609H

c.1826G>A

1 paper

NM_001382347.1

p.T613S

c.1837A>T

1 paper

NM_001382347.1

p.R614Q

c.1841G>A

1 paper

NM_001382347.1

p.P619L

c.1856C>T

1 paper

NM_001382347.1

p.E596*

c.1786G>T

1 paper

NM_001382347.1

p.P624S

c.1870C>T

1 paper

NM_001382347.1

p.F592L

c.1776T>A

1 paper

NM_001382347.1

p.Q626K

c.1876C>A

2 papers

NM_001382347.1

p.M627T

c.1880T>C

1 paper

NM_001382347.1

p.H631H

c.1893C>T

1 paper

NM_001382347.1

p.K586M

c.1757A>T

1 paper

NM_001382347.1

p.K633N

c.1899A>T