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.D164N

c.490G>A

Surrounding Variants

1 paper

NM_005379.4

p.F167fs

c.499_500fs

1 paper

NM_005379.4

p.F167delFs

c.501delA

1 paper

NM_005379.4

p.S172C

c.515C>G

1 paper

NM_005379.4

p.G175D

c.524G>A

1 paper

NM_005379.4

p.Y181Splc

c.541+6T>C

1 paper

NM_005379.4

p.S157F

c.470C>T

2 papers

NM_005379.4

p.R152C

c.454C>T

1 paper

NM_005379.4

p.K214Splc

c.640+1G>C

1 paper

NM_005379.4

p.E143_A144delFs

c.427_430del4

2 papers

NM_005379.4

p.A144T

c.430G>A

1 paper

NM_005379.4

p.L142L

c.424C>T

1 paper

NM_005379.4

p.L142M

c.424C>A