Varaico: Literature-Extracted Genetic Variants

MYO1A

172 papers

RefSeq Summary

This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional m...

Pfam Domains

Myosin_headaa 10–681UCSCMyosin head (motor domain)

IQaa 698–718UCSCIQ calmodulin-binding motif

IQaa 744–764UCSCIQ calmodulin-binding motif

Myosin_TH1aa 860–1042UCSCUnconventional myosin tail, actin- and lipid-binding

Gene Aliases

HGNC Name

myosin IA

HGNC Previous Symbols

MYHL; DFNA48; BBMI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_005379.4

p.I678F

c.2032A>T

Surrounding Variants

1 paper

NM_005379.4

p.T676I

c.2027C>T

5 papers

NM_005379.4

p.G674D

c.2021G>A

1 paper

NM_005379.4

p.T685T

c.2055T>C

1 paper

NM_005379.4

p.T685_L686Splc

c.2055+1G>T

11 papers

NM_005379.4

p.G662E

c.1985G>A

1 paper

NM_005379.4

p.R643Q

c.1928G>A

1 paper

NM_005379.4

p.R639Q

c.1916G>A

3 papers

NM_005379.4

p.R628G

c.1882C>G

1 paper

NM_005379.4

p.R621*

c.1861C>T

1 paper

NM_005379.4

p.R597Q

c.1790G>A

1 paper

NM_005379.4

p.Q595H

c.1785G>T

1 paper

NM_005379.4

p.Q595H

c.1785G>C