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.V2039L

c.6115G>C

Surrounding Variants

1 paper

NM_016239.4

p.R2038C

c.6112C>T

1 paper

NM_016239.4

p.D2044delFs

c.6130delG

2 papers

NM_016239.4

p.Q2034*

c.6100C>T

1 paper

NM_016239.4

p.D2044N

c.6130G>A

1 paper

NM_016239.4

p.D2044fs

c.6130_6131fs

2 papers

NM_016239.4

p.R2032*

c.6094C>T

1 paper

NM_016239.4

p.R2029S

c.6087G>C

1 paper

NM_016239.4

p.R2029S

c.6087G>T

1 paper

NM_016239.4

p.R2029K

c.6086G>A

1 paper

NM_016239.4

p.R2029W

c.6085A>T

3 papers

NM_016239.4

p.P2049H

c.6146C>A

1 paper

NM_016239.4

p.P2027delFs

c.6080_6081delCT