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.Q892_E893del1

c.2675_2677delAGG

Surrounding Variants

1 paper

NM_004999.4

p.Q892E

c.2674C>G

2 papers

NM_004999.4

p.T891M

c.2672C>T

1 paper

NM_004999.4

p.M889V

c.2665A>G

1 paper

NM_004999.4

p.V903D

c.2708T>A

1 paper

NM_004999.4

p.S906P

c.2716T>C

4 papers

NM_004999.4

p.S906*

c.2717C>A

3 papers

NM_004999.4

p.S906*

c.2717C>G

1 paper

NM_004999.4

p.L909H

c.2726T>A

1 paper

NM_004999.4

p.L910P

c.2729T>C

1 paper

NM_004999.4

p.Q914insFs

c.2741dupA

1 paper

NM_004999.4

p.Q914fs

c.2740_2741fs

22 papers

NM_004999.4

p.K917insFs

c.2751dupA