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.E165A

c.494A>C

Surrounding Variants

1 paper

NM_001080779.2

p.R166C

c.496C>T

1 paper

NM_001080779.2

p.R166H

c.497G>A

1 paper

NM_001080779.2

p.P162Q

c.485C>A

1 paper

NM_001080779.2

p.C161C

c.483C>T

1 paper

NM_001080779.2

p.V170M

c.508G>A

1 paper

NM_001080779.2

p.T160N

c.479C>A

1 paper

NM_001080779.2

p.A158V

c.473C>T

1 paper

NM_001080779.2

p.Y157C

c.470A>G

1 paper

NM_001080779.2

p.V170_R173delFs

c.510_519del10

2 papers

NM_001080779.2

p.P179Q

c.536C>A

1 paper

NM_001080779.2

p.A149V

c.446C>T

1 paper

NM_001080779.2

p.A144delFs

c.430delC