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.G850D

c.2549G>A

Surrounding Variants

1 paper

NM_001382347.1

p.R849Q

c.2546G>A

1 paper

NM_001382347.1

p.R849*

c.2545C>T

1 paper

NM_001382347.1

p.I842I

c.2526C>T

4 papers

NM_001382347.1

p.R831C

c.2491C>T

1 paper

NM_001382347.1

p.M827L

c.2479A>T

1 paper

NM_001382347.1

p.M827L

c.2479A>C

4 papers

NM_001382347.1

p.R826H

c.2477G>A

1 paper

NM_001382347.1

p.K823fs

c.2467_2468fs

2 papers

NM_001382347.1

p.R813H

c.2438G>A

3 papers

NM_001382347.1

p.R813C

c.2437C>T

1 paper

NM_001382347.1

p.F811I

c.2431T>A

1 paper

NM_001382347.1

p.A809T

c.2425G>A