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.E1988_E1989Splc

c.5965-8C>T

Surrounding Variants

7 papers

NM_016239.4

p.R1993W

c.5977C>T

10 papers

NM_016239.4

p.R1993Q

c.5978G>A

1 paper

NM_016239.4

p.E2002delFs

c.6004delG

1 paper

NM_016239.4

p.E2002fs

c.6004_6005fs

1 paper

NM_016239.4

p.P2004Q

c.6011C>A

2 papers

NM_016239.4

p.P2004L

c.6011C>T

1 paper

NM_016239.4

p.E2006G

c.6017A>G

2 papers

NM_016239.4

p.A2013delFs

c.6037delG

16 papers

NM_016239.4

p.E1988_E1989Splc

c.5964+3G>A

1 paper

NM_016239.4

p.E1988_E1989Splc

c.5964+3G>C

6 papers

NM_016239.4

p.G2016Splc

c.6046+1G>A

1 paper

NM_016239.4

p.G2016Splc

c.6046+1G>T