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.A1906A

c.5718C>A

Surrounding Variants

2 papers

NM_016239.4

p.T1908_L1909delFs

c.5722_5725del4

2 papers

NM_016239.4

p.T1908fs

c.5722_5723fs

1 paper

NM_016239.4

p.Q1910delFs

c.5728delC

1 paper

NM_016239.4

p.Q1910fs

c.5728_5729fs

1 paper

NM_016239.4

p.R1911P

c.5732G>C

1 paper

NM_016239.4

p.L1913R

c.5738T>G

5 papers

NM_016239.4

p.R1898Q

c.5693G>A

6 papers

NM_016239.4

p.R1898*

c.5692C>T

1 paper

NM_016239.4

p.F1916C

c.5747T>G

1 paper

NM_016239.4

p.I1918V

c.5752A>G

1 paper

NM_016239.4

p.E1895K

c.5683G>A

1 paper

NM_016239.4

p.I1918M

c.5754T>G