Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.F41I

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
4 papers
NM_002473.6
p.F41I
c.121T>A
Surrounding Variants
7 papers
NM_002473.6
p.F41L
c.121T>C
4 papers
NM_002473.6
p.F41S
c.122T>C
7 papers
NM_002473.6
p.F41L
c.123T>G
7 papers
NM_002473.6
p.F41L
c.123T>A
2 papers
NM_002473.6
p.S36_S39del0
c.108_116del9
1 paper
NM_002473.6
p.S39N
c.116G>A
1 paper
NM_002473.6
p.P43A
c.127C>G
1 paper
NM_002473.6
p.K38K
c.114G>A
2 papers
NM_002473.6
p.K38T
c.113A>C
11 papers
NM_002473.6
p.A44P
c.130G>C
2 papers
NM_002473.6
p.A44T
c.130G>A
2 papers
NM_002473.6
p.A44D
c.131C>A
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