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

5 papers

NM_016239.4

p.A2742Splc

c.8224+3A>G

Surrounding Variants

11 papers

NM_016239.4

p.F2741S

c.8222T>C

1 paper

NM_016239.4

p.A2739fs

c.8215_8216fs

1 paper

NM_016239.4

p.A2739delFs

c.8215delG

14 papers

NM_016239.4

p.E2733A

c.8198A>C

1 paper

NM_016239.4

p.D2732N

c.8194G>A

1 paper

NM_016239.4

p.E2731K

c.8191G>A

32 papers

NM_016239.4

p.R2728H

c.8183G>A

5 papers

NM_016239.4

p.R2728G

c.8182C>G

5 papers

NM_016239.4

p.R2728C

c.8182C>T

1 paper

NM_016239.4

p.E2724K

c.8170G>A

7 papers

NM_016239.4

p.D2720N

c.8158G>A

21 papers

NM_016239.4

p.D2720H

c.8158G>C