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.V183I

c.547G>A

Surrounding Variants

2 papers

NM_004999.4

p.A185Splc

c.553+1G>T

10 papers

NM_004999.4

p.D179Y

c.535G>T

1 paper

NM_004999.4

p.A185Splc

c.553+10A>G

1 paper

NM_004999.4

p.I178delFs

c.532delA

1 paper

NM_004999.4

p.Y172F

c.515A>T

1 paper

NM_004999.4

p.S171insFs

c.511_512ins4

1 paper

NM_004999.4

p.T169_E170insFs

c.507_508ins4

1 paper

NM_004999.4

p.A185Splc

c.553+178C>T

1 paper

NM_004999.4

p.R166Splc

c.497+5G>A

1 paper

NM_004999.4

p.R166Splc

c.497+3G>A

1 paper

NM_004999.4

p.R166Splc

c.497+1G>A

1 paper

NM_004999.4

p.L165R

c.494T>G