Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.H1401Y

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.H1401Y
c.4201C>T
Surrounding Variants
2 papers
NM_002473.6
p.R1400_H1401del1
c.4200_4202delTGC
1 paper
NM_002473.6
p.E1402K
c.4204G>A
1 paper
NM_002473.6
p.R1400_H1401del2
c.4198_4202del6
11 papers
NM_002473.6
p.R1400W
c.4198C>T
1 paper
NM_002473.6
p.A1407T
c.4219G>A
1 paper
NM_002473.6
p.Y1408D
c.4222T>G
1 paper
NM_002473.6
p.D1393D
c.4179C>T
1 paper
NM_002473.6
p.Y1408F
c.4223A>T
8 papers
NM_002473.6
p.D1409N
c.4225G>A
1 paper
NM_002473.6
p.K1389Q
c.4165A>C
1 paper
NM_002473.6
p.V1386L
c.4156G>T
1 paper
NM_002473.6
p.V1386L
c.4156G>C
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