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

2 papers

NM_004999.4

p.T1234S

c.3700A>T

Surrounding Variants

2 papers

NM_004999.4

p.T1234S

c.3701C>G

1 paper

NM_004999.4

p.G1235V

c.3704G>T

1 paper

NM_004999.4

p.R1240C

c.3718C>T

1 paper

NM_004999.4

p.R1240H

c.3719G>A

2 papers

NM_001368865.1

p.C1236R

c.3706T>C

1 paper

NM_004999.4

p.A1242P

c.3724G>C

13 papers

NM_004999.4

p.D1223N

c.3667G>A

1 paper

NM_004999.4

p.D1222E

c.3666C>A

1 paper

NM_004999.4

p.D1222E

c.3666C>G

2 papers

NM_004999.4

p.G1220Splc

c.3659-2A>G

2 papers

NM_004999.4

p.F1249S

c.3746T>C

1 paper

NM_004999.4

p.G1220Splc

c.3659-9T>C