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.R1370H

c.4109G>A

Surrounding Variants

4 papers

NM_016239.4

p.R1370C

c.4108C>T

4 papers

NM_016239.4

p.N1367K

c.4101C>A

3 papers

NM_016239.4

p.N1367K

c.4101C>G

1 paper

NM_016239.4

p.N1367D

c.4099A>G

1 paper

NM_016239.4

p.F1374delFs

c.4122delT

1 paper

NM_016239.4

p.D1366N

c.4096G>A

1 paper

NM_016239.4

p.V1375L

c.4123G>C

1 paper

NM_016239.4

p.V1375L

c.4123G>T

1 paper

NM_016239.4

p.E1380G

c.4139A>G

1 paper

NM_016239.4

p.A1360_K1361del1

c.4079_4081delCCA

1 paper

NM_016239.4

p.G1381Splc

c.4142+1G>A

7 papers

NM_016239.4

p.G1381Splc

c.4142+1G>T