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.R939fs

c.2815_2816fs

Surrounding Variants

3 papers

NM_004999.4

p.R939fs

c.2815_2816fs

1 paper

NM_004999.4

p.R940H

c.2819G>A

2 papers

NM_004999.4

p.K938_R939delFs

c.2814_2815delAA

1 paper

NM_004999.4

p.K935E

c.2803A>G

1 paper

NM_004999.4

p.E944K

c.2830G>A

5 papers

NM_004999.4

p.R946C

c.2836C>T

3 papers

NM_004999.4

p.R947*

c.2839C>T

2 papers

NM_004999.4

p.R947Q

c.2840G>A

3 papers

NM_004999.4

p.R928H

c.2783G>A

4 papers

NM_004999.4

p.R928C

c.2782C>T

1 paper

NM_004999.4

p.E950G

c.2849A>G

1 paper

NM_004999.4

p.E952_R954del3

c.2854_2861del9