Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.A6A

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.A6A
c.18C>T
Surrounding Variants
1 paper
NM_002473.6
p.D7N
c.19G>A
1 paper
NM_002473.6
p.D7G
c.20A>G
1 paper
NM_002473.6
p.A5P
c.13G>C
1 paper
NM_002473.6
p.L10F
c.28C>T
3 papers
NM_002473.6
p.Q3E
c.7C>G
1 paper
NM_002473.6
p.L10L
c.30C>A
1 paper
NM_002473.6
p.Y11H
c.31T>C
1 paper
NM_002473.6
p.A2insFs
c.4dupG
1 paper
NM_002473.6
p.M1_A2insFs
c.1_4dup4
1 paper
NM_002473.6
p.A2T
c.4G>A
2 papers
NM_002473.6
p.Y11C
c.32A>G
1 paper
NM_002473.6
p.Y11*
c.33T>A
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