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.G459D

c.1376G>A

Surrounding Variants

2 papers

NM_004999.4

p.E461K

c.1381G>A

1 paper

NM_004999.4

p.I457T

c.1370T>C

1 paper

NM_004999.4

p.D456insFs

c.1366_1367insC

1 paper

NM_004999.4

p.V454_L455del1

c.1362_1364delCCT

1 paper

NM_004999.4

p.I452T

c.1355T>C

1 paper

NM_004999.4

p.S449S

c.1347C>A

1 paper

NM_004999.4

p.S448L

c.1343C>T

34 papers

NM_004999.4

p.C442Y

c.1325G>A

2 papers

NM_004999.4

p.Q441P

c.1322A>C

1 paper

NM_004999.4

p.N440insFs

c.1319dupA

1 paper

NM_004999.4

p.R438_V439delFs

c.1312_1315del4

1 paper

NM_004999.4

p.Y428C

c.1283A>G