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.D240N

c.718G>A

Surrounding Variants

1 paper

NM_005379.4

p.S243N

c.728G>A

1 paper

NM_005379.4

p.E231Q

c.691G>C

1 paper

NM_005379.4

p.T223_L228del0

c.667_684del18

1 paper

NM_005379.4

p.N229_H230insGC

c.685_689ins6

1 paper

NM_005379.4

p.T222_Y227del0

c.664_681del18

1 paper

NM_005379.4

p.Y227Y

c.681T>C

1 paper

NM_005379.4

p.D221N

c.661G>A

1 paper

NM_005379.4

p.R220W

c.658C>T

1 paper

NM_005379.4

p.Q248_S249Splc

c.745-1G>A

1 paper

NM_005379.4

p.S257L

c.770C>T

1 paper

NM_005379.4

p.E259Q

c.775G>C

3 papers

NM_005379.4

p.R262*

c.784C>T