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.R1898*

c.5692C>T

Surrounding Variants

5 papers

NM_016239.4

p.R1898Q

c.5693G>A

1 paper

NM_016239.4

p.E1895K

c.5683G>A

5 papers

NM_016239.4

p.L1894P

c.5681T>C

1 paper

NM_016239.4

p.L1894R

c.5681T>G

1 paper

NM_016239.4

p.Y1891*

c.5673C>A

1 paper

NM_016239.4

p.Y1891*

c.5673C>G

1 paper

NM_016239.4

p.H1889Q

c.5667C>A

1 paper

NM_016239.4

p.H1889Q

c.5667C>G

1 paper

NM_016239.4

p.A1906A

c.5718C>A

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