Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.V1930delFs

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
7 papers
NM_002473.6
p.V1930delFs
c.5788delC
Surrounding Variants
1 paper
NM_002473.6
p.V1930M
c.5788G>A
4 papers
NM_002473.6
p.V1930fs
c.5788_5789fs
2 papers
NM_002473.6
p.V1930_P1931Fs
c.5788_5793delinsCGCGGGGACCGCGGGGACCGFs
4 papers
NM_002473.6
p.R1932fs
c.5794_5795fs
4 papers
NM_002473.6
p.R1932delFs
c.5794delG
4 papers
NM_002473.6
p.P1927fs
c.5779_5780fs
14 papers
NM_002473.6
p.P1927delFs
c.5780delG
79 papers
NM_002473.6
p.R1933*
c.5797C>T
1 paper
NM_002473.6
p.R1933G
c.5797C>G
7 papers
NM_002473.6
p.R1933fs
c.5797_5798fs
1 paper
NM_002473.6
p.R1932_R1933insFs
c.5796_5797dupCC
1 paper
NM_002473.6
p.P1931_R1933insFs
c.5793_5797dup5
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