Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.V56delFs

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.V56delFs
c.167delA
Surrounding Variants
3 papers
NM_002473.6
p.V56M
c.166G>A
1 paper
NM_002473.6
p.V56del1
c.166_167delCAC
2 papers
NM_002473.6
p.I55F
c.163A>T
1 paper
NM_002473.6
p.L58L
c.174G>C
1 paper
NM_002473.6
p.E60Q
c.178G>C
1 paper
NM_002473.6
p.E52K
c.154G>A
1 paper
NM_002473.6
p.N61S
c.182A>G
1 paper
NM_002473.6
p.G62R
c.184G>A
1 paper
NM_002473.6
p.E49K
c.145G>A
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.V65M
c.193G>A
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