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

3 papers

NM_004999.4

p.R928H

c.2783G>A

Surrounding Variants

4 papers

NM_004999.4

p.R928C

c.2782C>T

6 papers

NM_004999.4

p.L926Q

c.2777T>A

1 paper

NM_004999.4

p.R925S

c.2775G>C

1 paper

NM_004999.4

p.R925S

c.2775G>T

1 paper

NM_004999.4

p.E922K

c.2764G>A

1 paper

NM_004999.4

p.K935E

c.2803A>G

2 papers

NM_004999.4

p.K938_R939delFs

c.2814_2815delAA

5 papers

NM_004999.4

p.Q918insFs

c.2752_2753insA

2 papers

NM_004999.4

p.Q918fs

c.2752_2753fs

10 papers

NM_004999.4

p.Q918fs

c.2752_2753fs

1 paper

NM_004999.4

p.R939fs

c.2815_2816fs

3 papers

NM_004999.4

p.R939fs

c.2815_2816fs