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.L2091_I2092Splc

c.6274-10C>T

Surrounding Variants

3 papers

NM_016239.4

p.R2094H

c.6281G>A

1 paper

NM_016239.4

p.F2095L

c.6283T>C

1 paper

NM_016239.4

p.F2095L

c.6285C>A

1 paper

NM_016239.4

p.F2095L

c.6285C>G

1 paper

NM_016239.4

p.M2096L

c.6286A>C

1 paper

NM_016239.4

p.M2096L

c.6286A>T

3 papers

NM_016239.4

p.D2098N

c.6292G>A

1 paper

NM_016239.4

p.P2099_I2108del10

c.6295_6323del30

2 papers

NM_016239.4

p.L2101P

c.6302T>C

8 papers

NM_016239.4

p.H2102_G2103insFs

c.6306_6307insG

6 papers

NM_016239.4

p.A2104fs

c.6310_6311fs

2 papers

NM_016239.4

p.G2110R

c.6328G>A