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.E216*

c.646G>T

Surrounding Variants

1 paper

NM_004999.4

p.E216K

c.646G>A

15 papers

NM_004999.4

p.E216V

c.647A>T

1 paper

NM_004999.4

p.K217insFs

c.649_650insC

1 paper

NM_004999.4

p.K217_S218Splc

c.651+1G>A

1 paper

NM_004999.4

p.K217_S218Splc

c.651+4A>G

1 paper

NM_004999.4

p.I212T

c.635T>C

1 paper

NM_004999.4

p.V210I

c.628G>A

2 papers

NM_004999.4

p.K208E

c.622A>G

10 papers

NM_004999.4

p.R205Q

c.614G>A

1 paper

NM_004999.4

p.R205L

c.614G>T

9 papers

NM_004999.4

p.R205*

c.613C>T

4 papers

NM_004999.4

p.N202D

c.604A>G