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.G42V

c.125G>T

Surrounding Variants

1 paper

NM_005379.4

p.G42R

c.124G>C

1 paper

NM_005379.4

p.G42R

c.124G>A

3 papers

NM_005379.4

p.I56delFs

c.167delA

1 paper

NM_005379.4

p.F70S

c.209T>C

1 paper

NM_005379.4

p.Y71_P75delFs

c.211_223del13

1 paper

NM_005379.4

p.I77insFs

c.229_230insGC

1 paper

NM_005379.4

p.K35Q

c.103A>C

1 paper

NM_005379.4

p.L28L

c.84T>C

1 paper

NM_005379.4

p.L24L

c.72G>T

1 paper

NM_005379.4

p.E17_E21delins

c.51_63delinsA

1 paper

NM_005379.4

p.D12insFs

c.35_36insG

1 paper

NM_005379.4

p.V10delFs

c.30delC