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.G1386S

c.4156G>A

Surrounding Variants

1 paper

NM_016239.4

p.T1389delFs

c.4166delC

3 papers

NM_016239.4

p.G1381Splc

c.4143-1G>A

19 papers

NM_016239.4

p.Y1392*

c.4176C>A

19 papers

NM_016239.4

p.Y1392*

c.4176C>G

1 paper

NM_016239.4

p.R1398insFs

c.4194dupG

2 papers

NM_016239.4

p.R1398K

c.4193G>A

25 papers

NM_016239.4

p.V1400M

c.4198G>A

1 paper

NM_016239.4

p.V1400E

c.4199T>A

1 paper

NM_016239.4

p.G1381Splc

c.4142+6T>C

1 paper

NM_016239.4

p.G1381Splc

c.4142+5G>A

1 paper

NM_016239.4

p.G1381Splc

c.4142+1G>A

7 papers

NM_016239.4

p.G1381Splc

c.4142+1G>T