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

4 papers

NM_002473.6

p.G1940R

c.5818G>C

Surrounding Variants

4 papers

NM_002473.6

p.G1940R

c.5818G>A

8 papers

NM_002473.6

p.D1941fs

c.5821_5822fs

3 papers

NM_002473.6

p.A1939T

c.5815G>A

4 papers

NM_002473.6

p.G1940_D1941insFs

c.5820_5821dupGG

16 papers

NM_002473.6

p.G1940delFs

c.5818delC

4 papers

NM_002473.6

p.D1941fs

c.5821_5822fs

2 papers

NM_002473.6

p.G1938fs

c.5812_5813fs

2 papers

NM_002473.6

p.G1942delFs

c.5825delC

8 papers

NM_002473.6

p.S1943A

c.5827T>G

4 papers

NM_002473.6

p.K1937*

c.5809A>T

2 papers

NM_002473.6

p.R1936delFs

c.5808delC

4 papers

NM_002473.6

p.R1936Q

c.5807G>A