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

6 papers

NM_016239.4

p.Q2197*

c.6589C>T

Surrounding Variants

1 paper

NM_016239.4

p.Q2197R

c.6590A>G

1 paper

NM_016239.4

p.G2199S

c.6595G>A

1 paper

NM_016239.4

p.R2194W

c.6580C>T

1 paper

NM_016239.4

p.S2200*

c.6599C>A

1 paper

NM_016239.4

p.R2204C

c.6610C>T

4 papers

NM_016239.4

p.R2204H

c.6611G>A

22 papers

NM_016239.4

p.T2205I

c.6614C>T

1 paper

NM_016239.4

p.L2206I

c.6616T>A

2 papers

NM_016239.4

p.R2187H

c.6560G>A

1 paper

NM_016239.4

p.R2187C

c.6559C>T

2 papers

NM_016239.4

p.P2207L

c.6620C>T

1 paper

NM_016239.4

p.P2208L

c.6623C>T