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.N710T

c.2129A>C

Surrounding Variants

1 paper

NM_002473.6

p.F708ins0

c.2122_2124dupTTC

1 paper

NM_002473.6

p.G707A

c.2120G>C

2 papers

NM_002473.6

p.G707D

c.2120G>A

14 papers

NM_002473.6

p.Q706E

c.2116C>G

61 papers

NM_002473.6

p.R705H

c.2114G>A

1 paper

NM_002473.6

p.R705C

c.2113C>T

1 paper

NM_002473.6

p.C704Y

c.2111G>A

24 papers

NM_002473.6

p.R718W

c.2152C>T

1 paper

NM_002473.6

p.R702L

c.2105G>T

55 papers

NM_002473.6

p.R702H

c.2105G>A

2 papers

NM_002473.6

p.R718Q

c.2153G>A

116 papers

NM_002473.6

p.R702C

c.2104C>T