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.G2157_P2160delFs

c.6471_6478del8

Surrounding Variants

1 paper

NM_016239.4

p.G2157fs

c.6469_6470fs

1 paper

NM_016239.4

p.S2156R

c.6468T>A

1 paper

NM_016239.4

p.S2156R

c.6468T>G

1 paper

NM_016239.4

p.S2156R

c.6466A>C

2 papers

NM_016239.4

p.P2160L

c.6479C>T

2 papers

NM_016239.4

p.C2154Y

c.6461G>A

1 paper

NM_016239.4

p.S2161delFs

c.6482delC

4 papers

NM_016239.4

p.S2161F

c.6482C>T

9 papers

NM_016239.4

p.A2153fs

c.6457_6458fs

4 papers

NM_016239.4

p.A2153fs

c.6457_6458fs

4 papers

NM_016239.4

p.A2153delFs

c.6457delG

1 paper

NM_016239.4

p.P2162delFs

c.6486delG