Varaico: Literature-Extracted Genetic Variants

MYO6

415 papers

RefSeq Summary

This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a moto...

Pfam Domains

Myosin_headaa 59–759UCSCMyosin head (motor domain)

MYO6_leveraa 773–913UCSCMyosin VI, lever arm

Myosin-VI_CBDaa 1177–1267UCSCMyosin VI cargo binding domain

Gene Aliases

HGNC Name

myosin VI

HGNC Previous Symbols

DFNA22; DFNB37

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

22 papers

NM_004999.4

p.K917insFs

c.2751dupA

Surrounding Variants

3 papers

NM_004999.4

p.K917delFs

c.2751delA

1 paper

NM_004999.4

p.K915fs

c.2743_2744fs

1 paper

NM_004999.4

p.Q914insFs

c.2741dupA

1 paper

NM_004999.4

p.Q914fs

c.2740_2741fs

2 papers

NM_004999.4

p.K917fs

c.2749_2750fs

1 paper

NM_004999.4

p.K917fs

c.2749_2750fs

5 papers

NM_004999.4

p.Q918insFs

c.2752_2753insA

2 papers

NM_004999.4

p.Q918fs

c.2752_2753fs

10 papers

NM_004999.4

p.Q918fs

c.2752_2753fs

1 paper

NM_004999.4

p.L910P

c.2729T>C

1 paper

NM_004999.4

p.L909H

c.2726T>A

1 paper

NM_004999.4

p.E922K

c.2764G>A