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

4 papers

NM_005379.4

p.Y740*

c.2220T>A

Surrounding Variants

4 papers

NM_005379.4

p.Y740*

c.2220T>G

1 paper

NM_005379.4

p.K744fs

c.2230_2231fs

1 paper

NM_005379.4

p.V754delFs

c.2260delC

1 paper

NM_005379.4

p.G756R

c.2266G>C

1 paper

NM_005379.4

p.G756R

c.2266G>A

1 paper

NM_005379.4

p.S729F

c.2186C>T

1 paper

NM_005379.4

p.S728delFs

c.2184delG

1 paper

NM_005379.4

p.I727T

c.2180T>C

1 paper

NM_005379.4

p.R721Q

c.2162G>A

1 paper

NM_005379.4

p.G710V

c.2129G>T

2 papers

NM_005379.4

p.R760*

c.2278C>T

1 paper

NM_005379.4

p.R764H

c.2291G>A