Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.A1939T

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
3 papers
NM_002473.6
p.A1939T
c.5815G>A
Surrounding Variants
4 papers
NM_002473.6
p.G1940R
c.5818G>C
4 papers
NM_002473.6
p.G1940R
c.5818G>A
2 papers
NM_002473.6
p.G1938fs
c.5812_5813fs
8 papers
NM_002473.6
p.D1941fs
c.5821_5822fs
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.G1940_D1941insFs
c.5820_5821dupGG
16 papers
NM_002473.6
p.G1940delFs
c.5818delC
4 papers
NM_002473.6
p.D1941fs
c.5821_5822fs
4 papers
NM_002473.6
p.R1936Q
c.5807G>A
1 paper
NM_002473.6
p.R1936delFs
c.5806delG
1 paper
NM_002473.6
p.R1936fs
c.5806_5807fs
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