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

1 paper

NM_004999.4

p.A883D

c.2648C>A

Surrounding Variants

1 paper

NM_004999.4

p.A883A

c.2649C>A

1 paper

NM_004999.4

p.A883T

c.2647G>A

1 paper

NM_004999.4

p.L881F

c.2643G>C

1 paper

NM_004999.4

p.L881F

c.2643G>T

1 paper

NM_004999.4

p.I878T

c.2633T>C

1 paper

NM_004999.4

p.M867V

c.2599A>G

3 papers

NM_004999.4

p.E866_K869del4

c.2596_2606del12

3 papers

NM_004999.4

p.G863_E866del4

c.2587_2597del12

1 paper

NM_004999.4

p.V857A

c.2570T>C

1 paper

NM_004999.4

p.V857G

c.2570T>G

1 paper

NM_004999.4

p.V856A

c.2567T>C

1 paper

NM_004999.4

p.V856G

c.2567T>G