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

21 papers

NM_004999.4

p.R1166*

c.3496C>T

Surrounding Variants

2 papers

NM_004999.4

p.R1166L

c.3497G>T

1 paper

NM_004999.4

p.Q1168_R1169del2

c.3502_3506del6

1 paper

NM_004999.4

p.M1164R

c.3491T>G

1 paper

NM_004999.4

p.R1169H

c.3506G>A

2 papers

NM_004999.4

p.R1172H

c.3515G>A

1 paper

NM_004999.4

p.I1173T

c.3518T>C

1 paper

NM_004999.4

p.F1175insFs

c.3524_3525insA

1 paper

NM_004999.4

p.I1176L

c.3526A>C

1 paper

NM_004999.4

p.P1156fs

c.3466_3467fs

1 paper

NM_004999.4

p.I1155delFs

c.3465delT

1 paper

NM_004999.4

p.R1177C

c.3529C>T

1 paper

NM_004999.4

p.R1177H

c.3530G>A