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

4 papers

NM_004999.4

p.Y245C

c.734A>G

Surrounding Variants

1 paper

NM_004999.4

p.Y245F

c.734A>T

1 paper

NM_004999.4

p.Y245_H246insFs

c.735_736insTG

30 papers

NM_004999.4

p.H246R

c.737A>G

1 paper

NM_004999.4

p.N244Y

c.730A>T

1 paper

NM_004999.4

p.L251F

c.753G>C

1 paper

NM_004999.4

p.C252R

c.754T>C

1 paper

NM_004999.4

p.C252Y

c.755G>A

1 paper

NM_004999.4

p.R234R

c.702G>A

1 paper

NM_004999.4

p.E257V

c.770A>T

1 paper

NM_004999.4

p.Y228*

c.684T>A

1 paper

NM_004999.4

p.Y228*

c.684T>G

1 paper

NM_004999.4

p.L263R

c.788T>G