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.E385D

c.1155G>C

Surrounding Variants

1 paper

NM_001382347.1

p.E385D

c.1155G>T

1 paper

NM_001382347.1

p.I388V

c.1162A>G

2 papers

NM_001382347.1

p.R378W

c.1132C>T

1 paper

NM_001382347.1

p.H377R

c.1130A>G

1 paper

NM_001382347.1

p.W374*

c.1122G>A

1 paper

NM_001382347.1

p.T397M

c.1190C>T

2 papers

NM_001382347.1

p.R400L

c.1199G>T

2 papers

NM_001382347.1

p.E369G

c.1106A>G

2 papers

NM_001382347.1

p.V366_Y368del0

c.1096_1104del9

1 paper

NM_001382347.1

p.Y368C

c.1103A>G

2 papers

NM_001382347.1

p.A404T

c.1210G>A

1 paper

NM_001382347.1

p.Y408N

c.1222T>A