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.G193fs

c.577_578fs

Surrounding Variants

1 paper

NM_004999.4

p.G193fs

c.577_578fs

1 paper

NM_004999.4

p.G193insFs

c.579dupA

3 papers

NM_004999.4

p.G193delFs

c.577delG

1 paper

NM_004999.4

p.F192C

c.575T>G

1 paper

NM_004999.4

p.A191P

c.571G>C

3 papers

NM_004999.4

p.A195E

c.584C>A

1 paper

NM_004999.4

p.A195V

c.584C>T

1 paper

NM_004999.4

p.L189insFs

c.566dupT

1 paper

NM_004999.4

p.T197I

c.590C>T

1 paper

NM_004999.4

p.P187del1

c.559_560delCCA

1 paper

NM_004999.4

p.R199L

c.596G>T

1 paper

NM_004999.4

p.N200Y

c.598A>T