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.V2135L

c.6403G>T

Surrounding Variants

1 paper

NM_016239.4

p.V2135L

c.6403G>C

1 paper

NM_016239.4

p.Q2130*

c.6388C>T

25 papers

NM_016239.4

p.R2124Q

c.6371G>A

8 papers

NM_016239.4

p.R2146W

c.6436C>T

2 papers

NM_016239.4

p.R2124W

c.6370C>T

16 papers

NM_016239.4

p.R2146Q

c.6437G>A

1 paper

NM_016239.4

p.G2147S

c.6439G>A

13 papers

NM_016239.4

p.W2148R

c.6442T>A

12 papers

NM_016239.4

p.W2148R

c.6442T>C

1 paper

NM_016239.4

p.L2118L

c.6354G>C

1 paper

NM_016239.4

p.A2152P

c.6454G>C

4 papers

NM_016239.4

p.A2153delFs

c.6457delG