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

17 papers

NM_004999.4

p.R849*

c.2545C>T

Surrounding Variants

1 paper

NM_004999.4

p.D851_K852insFs

c.2553_2554ins4

3 papers

NM_004999.4

p.T845I

c.2534C>T

2 papers

NM_004999.4

p.G844D

c.2531G>A

1 paper

NM_004999.4

p.V843A

c.2528T>C

1 paper

NM_004999.4

p.E855fs

c.2563_2564fs

3 papers

NM_004999.4

p.E855insFs

c.2563_2564insT

1 paper

NM_004999.4

p.E855fs

c.2563_2564fs

1 paper

NM_004999.4

p.E855D

c.2565G>C

1 paper

NM_004999.4

p.E855D

c.2565G>T

1 paper

NM_004999.4

p.V856A

c.2567T>C

1 paper

NM_004999.4

p.V856G

c.2567T>G

1 paper

NM_004999.4

p.V841I

c.2521G>A