Varaico: Literature-Extracted Genetic Variants

MYO15A

622 papers

RefSeq Summary

This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this p...

Pfam Domains

Myosin_headaa 1224–1887UCSCMyosin head (motor domain)

IQaa 1926–1946UCSCIQ calmodulin-binding motif

MyTH4aa 2110–2215UCSCMyTH4 domain

MYO15aa 2696–2773UCSCUnconventional myosin-XV-like domain

SH3_2aa 2871–2951UCSCVariant SH3 domain

MyTH4aa 3096–3202UCSCMyTH4 domain

Gene Aliases

HGNC Name

myosin XVA

HGNC Previous Symbols

DFNB3; MYO15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016239.4

p.Q2181R

c.6542A>G

Surrounding Variants

1 paper

NM_016239.4

p.C2184S

c.6550T>A

1 paper

NM_016239.4

p.C2184R

c.6550T>C

1 paper

NM_016239.4

p.C2184S

c.6551G>C

1 paper

NM_016239.4

p.R2177Q

c.6530G>A

1 paper

NM_016239.4

p.R2177W

c.6529C>T

1 paper

NM_016239.4

p.R2187C

c.6559C>T

2 papers

NM_016239.4

p.R2187H

c.6560G>A

1 paper

NM_016239.4

p.D2174G

c.6521A>G

1 paper

NM_016239.4

p.S2173F

c.6518C>T

1 paper

NM_016239.4

p.S2173T

c.6517T>A

1 paper

NM_016239.4

p.V2172A

c.6515T>C

1 paper

NM_016239.4

p.K2170Splc

c.6510-1G>T