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.Q421R

c.1262A>G

Surrounding Variants

1 paper

NM_001382347.1

p.A422insFs

c.1265dupC

1 paper

NM_001382347.1

p.N420D

c.1258A>G

1 paper

NM_001382347.1

p.D417A

c.1250A>C

1 paper

NM_001382347.1

p.I415delFs

c.1244delA

1 paper

NM_001382347.1

p.V427delFs

c.1280delA

1 paper

NM_001382347.1

p.H430H

c.1290C>T

1 paper

NM_001382347.1

p.K410M

c.1229A>T

2 papers

NM_001382347.1

p.A409T

c.1225G>A

1 paper

NM_001382347.1

p.Y408N

c.1222T>A

2 papers

NM_001382347.1

p.A404T

c.1210G>A

2 papers

NM_001382347.1

p.R400L

c.1199G>T

1 paper

NM_001382347.1

p.T397M

c.1190C>T