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

22 papers

NM_016239.4

p.V2266M

c.6796G>A

Surrounding Variants

2 papers

NM_016239.4

p.M2268I

c.6804G>A

2 papers

NM_016239.4

p.M2268I

c.6804G>C

2 papers

NM_016239.4

p.M2268I

c.6804G>T

11 papers

NM_016239.4

p.G2263S

c.6787G>A

1 paper

NM_016239.4

p.R2262H

c.6785G>A

2 papers

NM_016239.4

p.Y2282C

c.6845A>G

1 paper

NM_016239.4

p.V2283M

c.6847G>A

1 paper

NM_016239.4

p.L2284S

c.6851T>C

4 papers

NM_016239.4

p.S2288L

c.6863C>T

2 papers

NM_016239.4

p.L2292L

c.6874C>T

6 papers

NM_016239.4

p.R2298*

c.6892C>T

7 papers

NM_016239.4

p.R2298Q

c.6893G>A