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.F750L

c.2250C>A

Surrounding Variants

3 papers

NM_001382347.1

p.F750L

c.2250C>G

3 papers

NM_001382347.1

p.F750L

c.2248T>C

1 paper

NM_001382347.1

p.Q742H

c.2226G>T

1 paper

NM_001382347.1

p.Q742H

c.2226G>C

1 paper

NM_001382347.1

p.D764V

c.2291A>T

1 paper

NM_001382347.1

p.R772W

c.2314C>T

1 paper

NM_001382347.1

p.Q774H

c.2322G>C

3 papers

NM_001382347.1

p.R778*

c.2332C>T

1 paper

NM_001382347.1

p.G779insFs

c.2336_2337insAG

1 paper

NM_001382347.1

p.L787_R788insFs

c.2361_2362insA

1 paper

NM_001382347.1

p.R788H

c.2363G>A

1 paper

NM_001382347.1

p.R790W

c.2368C>T