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

2 papers

NM_002473.6

p.Q1419*

c.4255C>T

Surrounding Variants

3 papers

NM_002473.6

p.Q1420E

c.4258C>G

4 papers

NM_002473.6

p.R1417Q

c.4250G>A

1 paper

NM_002473.6

p.E1421Q

c.4261G>C

4 papers

NM_002473.6

p.E1421K

c.4261G>A

1 paper

NM_002473.6

p.R1417W

c.4249C>T

4 papers

NM_002473.6

p.E1421A

c.4262A>C

1 paper

NM_002473.6

p.T1416M

c.4247C>T

23 papers

NM_002473.6

p.D1424Y

c.4270G>T

61 papers

NM_002473.6

p.D1424H

c.4270G>C

113 papers

NM_002473.6

p.D1424N

c.4270G>A

10 papers

NM_002473.6

p.D1424G

c.4271A>G

1 paper

NM_002473.6

p.D1424A

c.4271A>C