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.K1343R

c.4028A>G

Surrounding Variants

1 paper

NM_001382347.1

p.Y1339F

c.4016A>T

1 paper

NM_001382347.1

p.E1334*

c.4000G>T

1 paper

NM_001382347.1

p.E1331_D1332insFs

c.3993_3994insCA

1 paper

NM_001382347.1

p.E1328K

c.3982G>A

1 paper

NM_001382347.1

p.S1321A

c.3961T>G

4 papers

NM_001382347.1

p.R1320S

c.3960A>T

4 papers

NM_001382347.1

p.R1320S

c.3960A>C

1 paper

NM_001382347.1

p.K1357M

c.4070A>T

1 paper

NM_001382347.1

p.A1366D

c.4097C>A

1 paper

NM_001382347.1

p.E1370D

c.4110G>T

1 paper

NM_001382347.1

p.E1370D

c.4110G>C

1 paper

NM_001382347.1

p.E1376K

c.4126G>A