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.M143V

c.427A>G

Surrounding Variants

1 paper

NM_004999.4

p.M143_S144del2

c.427_431del6

3 papers

NM_004999.4

p.M143_S144del1

c.429_431delGAG

1 paper

NM_004999.4

p.K142E

c.424A>G

1 paper

NM_004999.4

p.S144I

c.431G>T

2 papers

NM_004999.4

p.V140E

c.419T>A

1 paper

NM_004999.4

p.V140delFs

c.419delT

1 paper

NM_004999.4

p.M138R

c.413T>G

1 paper

NM_004999.4

p.R136*

c.406C>T

2 papers

NM_004999.4

p.F135L

c.405T>A

1 paper

NM_004999.4

p.E152A

c.455A>C

1 paper

NM_004999.4

p.K133E

c.397A>G

3 papers

NM_004999.4

p.S153*

c.458C>A