Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.R1433C

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.R1433C
c.4297C>T
Surrounding Variants
1 paper
NM_002473.6
p.R1433H
c.4298G>A
1 paper
NM_002473.6
p.L1425_Q1432delFs
c.4274_4295del22
2 papers
NM_002473.6
p.Q1434H
c.4302G>T
2 papers
NM_002473.6
p.Q1434H
c.4302G>C
1 paper
NM_002473.6
p.S1435fs
c.4303_4304fs
1 paper
NM_002473.6
p.S1435G
c.4303A>G
1 paper
NM_002473.6
p.Q1434delFs
c.4302delC
1 paper
NM_002473.6
p.D1430V
c.4289A>T
10 papers
NM_002473.6
p.A1436T
c.4306G>A
3 papers
NM_002473.6
p.D1430N
c.4288G>A
1 paper
NM_002473.6
p.A1436V
c.4307C>T
1 paper
NM_002473.6
p.L1429Q
c.4286T>A
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