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

9 papers

NM_004999.4

p.R80*

c.238C>T

Surrounding Variants

1 paper

NM_004999.4

p.L73Q

c.218T>A

1 paper

NM_004999.4

p.L73V

c.217C>G

1 paper

NM_004999.4

p.T72T

c.216A>T

1 paper

NM_004999.4

p.Y87_T88Splc

c.261+1G>T

1 paper

NM_004999.4

p.Y87_T88Splc

c.261+2T>C

2 papers

NM_004999.4

p.L68*

c.203T>A

2 papers

NM_004999.4

p.L68*

c.203T>G

3 papers

NM_004999.4

p.Y67delFs

c.201delT

1 paper

NM_004999.4

p.Y67fs

c.199_200fs

1 paper

NM_004999.4

p.M66L

c.196A>C

1 paper

NM_004999.4

p.M66L

c.196A>T

1 paper

NM_004999.4

p.C63fs

c.187_188fs