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

1 paper

NM_005379.4

p.L142M

c.424C>A

Surrounding Variants

1 paper

NM_005379.4

p.L142L

c.424C>T

2 papers

NM_005379.4

p.A144T

c.430G>A

1 paper

NM_005379.4

p.P140S

c.418C>T

1 paper

NM_005379.4

p.P140A

c.418C>G

1 paper

NM_005379.4

p.E143_A144delFs

c.427_430del4

1 paper

NM_005379.4

p.V121I

c.361G>A

1 paper

NM_005379.4

p.Y117insFs

c.349dupT

5 papers

NM_005379.4

p.Y117ins1

c.350_351insCTT

2 papers

NM_005379.4

p.R152C

c.454C>T

1 paper

NM_005379.4

p.S157F

c.470C>T

2 papers

NM_005379.4

p.D92_C96delFs

c.274_287del14

1 paper

NM_005379.4

p.D94E

c.282C>G