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.A1203V

c.3608C>T

Surrounding Variants

1 paper

NM_004999.4

p.A1203S

c.3607G>T

13 papers

NM_004999.4

p.R1204W

c.3610C>T

1 paper

NM_004999.4

p.M1206I

c.3618G>A

1 paper

NM_004999.4

p.M1206I

c.3618G>C

1 paper

NM_004999.4

p.M1206I

c.3618G>T

1 paper

NM_004999.4

p.P1210L

c.3629C>T

3 papers

NM_004999.4

p.W1192L

c.3575G>T

1 paper

NM_004999.4

p.G1191S

c.3571G>A

1 paper

NM_004999.4

p.R1177H

c.3530G>A

1 paper

NM_004999.4

p.R1177C

c.3529C>T

1 paper

NM_004999.4

p.I1176L

c.3526A>C

1 paper

NM_004999.4

p.F1175insFs

c.3524_3525insA