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

1–12 of 600 variants

34 papers

NM_004999.4

p.C442Y

c.1325G>A

30 papers

NM_004999.4

p.H246R

c.737A>G

22 papers

NM_004999.4

p.K917insFs

c.2751dupA

21 papers

NM_004999.4

p.R1166*

c.3496C>T

17 papers

NM_004999.4

p.R849*

c.2545C>T

15 papers

NM_004999.4

p.E216V

c.647A>T

13 papers

NM_004999.4

p.R1204W

c.3610C>T

13 papers

NM_004999.4

p.D1223N

c.3667G>A

10 papers

NM_004999.4

p.D179Y

c.535G>T

10 papers

NM_004999.4

p.R205Q

c.614G>A

10 papers

NM_004999.4

p.Q918fs

c.2752_2753fs

9 papers

NM_004999.4

p.R80*

c.238C>T