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

21 papers

NM_016239.4

p.I3421M

c.10263C>G

Surrounding Variants

6 papers

NM_016239.4

p.Q3422H

c.10266G>C

6 papers

NM_016239.4

p.Q3422H

c.10266G>T

29 papers

NM_016239.4

p.F3420del1

c.10258_10260delTTC

2 papers

NM_016239.4

p.S3417_F3418del2

c.10249_10253del6

31 papers

NM_016239.4

p.S3417del1

c.10249_10250delTCC

1 paper

NM_016239.4

p.F3414F

c.10242C>T

1 paper

NM_016239.4

p.G3415_S3416del2

c.10243_10247del6

2 papers

NM_016239.4

p.P3432_A3436del0

c.10294_10308del15

1 paper

NM_016239.4

p.P3432S

c.10294C>T

1 paper

NM_016239.4

p.G3406Splc

c.10217-3C>T

1 paper

NM_016239.4

p.H3450_E3451Splc

c.10350+1G>A

3 papers

NM_016239.4

p.H3450_E3451Splc

c.10350+2T>G