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

23 papers

NM_016239.4

p.W1975*

c.5924G>A

Surrounding Variants

24 papers

NM_016239.4

p.W1975*

c.5925G>A

1 paper

NM_016239.4

p.W1975C

c.5925G>C

1 paper

NM_016239.4

p.W1975C

c.5925G>T

1 paper

NM_016239.4

p.W1975R

c.5923T>C

6 papers

NM_016239.4

p.C1977R

c.5929T>C

1 paper

NM_016239.4

p.C1977Y

c.5930G>A

1 paper

NM_016239.4

p.A1973T

c.5917G>A

1 paper

NM_016239.4

p.L1971L

c.5913G>A

1 paper

NM_016239.4

p.K1970_L1971Splc

c.5911-2A>C

16 papers

NM_016239.4

p.E1988_E1989Splc

c.5964+3G>A

1 paper

NM_016239.4

p.E1988_E1989Splc

c.5964+3G>C

1 paper

NM_016239.4

p.E1988_E1989Splc

c.5965-8C>T