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.G681D

c.2042G>A

Surrounding Variants

1 paper

NM_002473.6

p.G681S

c.2041G>A

1 paper

NM_002473.6

p.K679_A680Splc

c.2038-5T>C

1 paper

NM_002473.6

p.H686Y

c.2056C>T

2 papers

NM_002473.6

p.G681_L687del0

c.2043_2060del18

1 paper

NM_002473.6

p.L689M

c.2065C>A

1 paper

NM_002473.6

p.L692L

c.2074C>T

2 papers

NM_002473.6

p.C694R

c.2080T>C

1 paper

NM_002473.6

p.G696S

c.2086G>A

1 paper

NM_002473.6

p.V697L

c.2089G>C

1 paper

NM_002473.6

p.E699Q

c.2095G>C

1 paper

NM_002473.6

p.E699insFs

c.2096_2097dupAG

116 papers

NM_002473.6

p.R702C

c.2104C>T