Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.D70A

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.D70A
c.209A>C
Surrounding Variants
1 paper
NM_002473.6
p.D70E
c.210T>A
1 paper
NM_002473.6
p.D71delFs
c.211delC
9 papers
NM_002473.6
p.K74E
c.220A>G
3 papers
NM_002473.6
p.K74_M75del1
c.221_223delTCT
1 paper
NM_002473.6
p.V65M
c.193G>A
1 paper
NM_002473.6
p.K64del1
c.190_191delCTT
1 paper
NM_002473.6
p.K64N
c.192G>T
1 paper
NM_002473.6
p.K64N
c.192G>C
1 paper
NM_002473.6
p.P78S
c.232C>T
1 paper
NM_002473.6
p.G62R
c.184G>A
1 paper
NM_002473.6
p.N61S
c.182A>G
1 paper
NM_002473.6
p.K79K
c.237G>A
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