Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.G1942delFs

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.G1942delFs
c.5825delC
Surrounding Variants
8 papers
NM_002473.6
p.S1943A
c.5827T>G
4 papers
NM_002473.6
p.D1941fs
c.5821_5822fs
1 paper
NM_002473.6
p.D1944N
c.5830G>A
4 papers
NM_002473.6
p.G1940_D1941insFs
c.5820_5821dupGG
16 papers
NM_002473.6
p.G1940delFs
c.5818delC
8 papers
NM_002473.6
p.D1941fs
c.5821_5822fs
21 papers
NM_002473.6
p.E1945*
c.5833G>T
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.E1946K
c.5836G>A
3 papers
NM_002473.6
p.A1939T
c.5815G>A
1 paper
NM_002473.6
p.E1946V
c.5837A>T
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