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

2 papers

NM_001080779.2

p.R103C

c.307C>T

Surrounding Variants

3 papers

NM_001080779.2

p.R98W

c.292C>T

1 paper

NM_001080779.2

p.S108I

c.323G>T

1 paper

NM_001080779.2

p.Y96C

c.287A>G

1 paper

NM_001080779.2

p.Q94Q

c.282G>A

1 paper

NM_001080779.2

p.V83I

c.247G>A

1 paper

NM_001080779.2

p.P82L

c.245C>T

1 paper

NM_001080779.2

p.Y77_T78Splc

c.231+1G>A

1 paper

NM_001080779.2

p.Y77F

c.230A>T

1 paper

NM_001080779.2

p.Y77C

c.230A>G

1 paper

NM_001080779.2

p.R68Q

c.203G>A

1 paper

NM_001080779.2

p.S59N

c.176G>A

1 paper

NM_001080779.2

p.N56S

c.167A>G