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

2 papers

NM_005379.4

p.K1033delFs

c.3098delT

Surrounding Variants

2 papers

NM_005379.4

p.K1033fs

c.3097_3098fs

2 papers

NM_005379.4

p.K1033fs

c.3097_3098fs

1 paper

NM_005379.4

p.K1031N

c.3093A>T

1 paper

NM_005379.4

p.K1031N

c.3093A>C

1 paper

NM_005379.4

p.Q1043L

c.3128A>T

3 papers

NM_005379.4

p.V1017I

c.3049G>A

1 paper

NM_005379.4

p.E1009del1

c.3025_3027delCTC

1 paper

NM_005379.4

p.E1009A

c.3026A>C

3 papers

NM_005379.4

p.T996I

c.2987C>T

1 paper

NM_005379.4

p.T991M

c.2972C>T

1 paper

NM_005379.4

p.E974K

c.2920G>A

1 paper

NM_005379.4

p.S961P

c.2881T>C