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

55 papers

NM_002473.6

p.R702H

c.2105G>A

Surrounding Variants

1 paper

NM_002473.6

p.R702L

c.2105G>T

116 papers

NM_002473.6

p.R702C

c.2104C>T

1 paper

NM_002473.6

p.R702_I703insCG

c.2104_2108ins6

10 papers

NM_002473.6

p.R702S

c.2104C>A

1 paper

NM_002473.6

p.C704Y

c.2111G>A

1 paper

NM_002473.6

p.E699insFs

c.2096_2097dupAG

1 paper

NM_002473.6

p.R705C

c.2113C>T

61 papers

NM_002473.6

p.R705H

c.2114G>A

1 paper

NM_002473.6

p.E699Q

c.2095G>C

14 papers

NM_002473.6

p.Q706E

c.2116C>G

1 paper

NM_002473.6

p.G707A

c.2120G>C

2 papers

NM_002473.6

p.G707D

c.2120G>A