Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.K79del1

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.K79del1
c.235_236delCTT
Surrounding Variants
1 paper
NM_002473.6
p.M75_K79del0
c.223_237del15
1 paper
NM_002473.6
p.K79K
c.237G>A
1 paper
NM_002473.6
p.P78S
c.232C>T
5 papers
NM_002473.6
p.N76_K82del0
c.228_245del18
1 paper
NM_002473.6
p.E84Q
c.250G>C
3 papers
NM_002473.6
p.K74_M75del1
c.221_223delTCT
1 paper
NM_002473.6
p.D85E
c.255C>G
1 paper
NM_002473.6
p.D85E
c.255C>A
9 papers
NM_002473.6
p.K74E
c.220A>G
2 papers
NM_002473.6
p.A87E
c.260C>A
1 paper
NM_002473.6
p.A87delFs
c.259_260delGC
1 paper
NM_002473.6
p.D71delFs
c.211delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."