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

39 papers

NM_016239.4

p.L3160F

c.9478C>T

Surrounding Variants

1 paper

NM_016239.4

p.L3160P

c.9479T>C

3 papers

NM_016239.4

p.L3156P

c.9467T>C

1 paper

NM_016239.4

p.R3165W

c.9493C>T

1 paper

NM_016239.4

p.P3154_H3155del1

c.9461_9463delCAC

1 paper

NM_016239.4

p.L3152H

c.9455T>A

1 paper

NM_016239.4

p.L3169P

c.9506T>C

1 paper

NM_016239.4

p.P3170H

c.9509C>A

1 paper

NM_016239.4

p.C3148Y

c.9443G>A

2 papers

NM_016239.4

p.Q3172*

c.9514C>T

1 paper

NM_016239.4

p.Q3172R

c.9515A>G

10 papers

NM_016239.4

p.G3173R

c.9517G>A

8 papers

NM_016239.4

p.G3173R

c.9517G>C