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

15 papers

NM_002473.6

p.L46F

c.136C>T

Surrounding Variants

1 paper

NM_002473.6

p.S45N

c.134G>A

1 paper

NM_002473.6

p.K47N

c.141G>C

2 papers

NM_002473.6

p.A44D

c.131C>A

1 paper

NM_002473.6

p.A44delins

c.130_131delinsAA

11 papers

NM_002473.6

p.A44P

c.130G>C

2 papers

NM_002473.6

p.A44T

c.130G>A

1 paper

NM_002473.6

p.E48K

c.142G>A

1 paper

NM_002473.6

p.E49K

c.145G>A

1 paper

NM_002473.6

p.P43A

c.127C>G

7 papers

NM_002473.6

p.F41L

c.123T>G

7 papers

NM_002473.6

p.F41L

c.123T>A

4 papers

NM_002473.6

p.F41S

c.122T>C