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

1–12 of 1779 variants

39 papers

NM_016239.4

p.L3160F

c.9478C>T

32 papers

NM_016239.4

p.R2728H

c.8183G>A

31 papers

NM_016239.4

p.S3417del1

c.10249_10250delTCC

29 papers

NM_016239.4

p.F3420del1

c.10258_10260delTTC

25 papers

NM_016239.4

p.V1400M

c.4198G>A

25 papers

NM_016239.4

p.R2124Q

c.6371G>A

24 papers

NM_016239.4

p.W1975*

c.5925G>A

23 papers

NM_016239.4

p.R1937H

c.5810G>A

23 papers

NM_016239.4

p.W1975*

c.5924G>A

22 papers

NM_016239.4

p.T2205I

c.6614C>T

22 papers

NM_016239.4

p.V2266M

c.6796G>A

21 papers

NM_016239.4

p.D2720H

c.8158G>C