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

8 papers

NM_001382347.1

p.R1246C

c.3736C>T

Surrounding Variants

1 paper

NM_001382347.1

p.R1246H

c.3737G>A

1 paper

NM_001382347.1

p.A1244T

c.3730G>A

1 paper

NM_001382347.1

p.A1239T

c.3715G>A

1 paper

NM_001382347.1

p.P1235L

c.3704C>T

1 paper

NM_001382347.1

p.P1235S

c.3703C>T

1 paper

NM_001382347.1

p.E1258insFs

c.3773_3774ins10

1 paper

NM_001382347.1

p.L1259F

c.3775C>T

1 paper

NM_001382347.1

p.D1260G

c.3779A>G

1 paper

NM_001382347.1

p.S1230N

c.3689G>A

1 paper

NM_001382347.1

p.R1226H

c.3677G>A

1 paper

NM_001382347.1

p.L1211Q

c.3632T>A

1 paper

NM_001382347.1

p.Q1281insFs

c.3841dupC