Varaico: Literature-Extracted Genetic Variants

MYO1C

92 papers

RefSeq Summary

This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also ...

Pfam Domains

Myosin_headaa 48–718UCSCMyosin head (motor domain)

IQaa 735–755UCSCIQ calmodulin-binding motif

IQaa 758–777UCSCIQ calmodulin-binding motif

Myosin_TH1aa 887–1060UCSCUnconventional myosin tail, actin- and lipid-binding

Gene Aliases

HGNC Name

myosin IC

HGNC Alias Symbols

myr2; MyoIC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001080779.2

p.L53M

c.157C>A

Surrounding Variants

1 paper

NM_001080779.2

p.N56S

c.167A>G

1 paper

NM_001080779.2

p.S59N

c.176G>A

1 paper

NM_001080779.2

p.R45W

c.133C>T

1 paper

NM_001080779.2

p.D44H

c.130G>C

1 paper

NM_001080779.2

p.D44N

c.130G>A

1 paper

NM_001080779.2

p.R43H

c.128G>A

1 paper

NM_001080779.2

p.S38R

c.114T>G

1 paper

NM_001080779.2

p.S38R

c.114T>A

1 paper

NM_001080779.2

p.S38R

c.112A>C

1 paper

NM_001080779.2

p.R68Q

c.203G>A

1 paper

NM_001080779.2

p.R33W

c.97C>T

1 paper

NM_001080779.2

p.S29N

c.86G>A