Varaico: Literature-Extracted Genetic Variants

MYH9

945 papers

RefSeq Summary

This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that c...

Pfam Domains

Myosin_Naa 27–72UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 83–764UCSCMyosin head (motor domain)

Myosin_tail_1aa 841–1921UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 9

HGNC Previous Symbol

DFNA17

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002473.6

p.Q1186*

c.3556C>T

Surrounding Variants

1 paper

NM_002473.6

p.Q1186H

c.3558G>T

1 paper

NM_002473.6

p.Q1186H

c.3558G>C

1 paper

NM_002473.6

p.A1185G

c.3554C>G

1 paper

NM_002473.6

p.I1187T

c.3560T>C

1 paper

NM_002473.6

p.E1184*

c.3550G>T

1 paper

NM_002473.6

p.E1177Q

c.3529G>C

5 papers

NM_002473.6

p.S1195L

c.3584C>T

1 paper

NM_002473.6

p.L1176M

c.3526C>A

1 paper

NM_002473.6

p.T1175insFs

c.3524_3525insA

1 paper

NM_002473.6

p.A1197A

c.3591C>T

2 papers

NM_002473.6

p.A1197fs

c.3589_3590fs

1 paper

NM_002473.6

p.V1198M

c.3592G>A