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.N260S

c.779A>G

Surrounding Variants

1 paper

NM_001080779.2

p.P261S

c.781C>T

1 paper

NM_001080779.2

p.R259Q

c.776G>A

1 paper

NM_001080779.2

p.R253H

c.758G>A

2 papers

NM_001080779.2

p.V268M

c.802G>A

1 paper

NM_001080779.2

p.G247insFs

c.740dupG

1 paper

NM_001080779.2

p.G247A

c.740G>C

1 paper

NM_001080779.2

p.G247D

c.740G>A

2 papers

NM_001080779.2

p.H238Y

c.712C>T

1 paper

NM_001080779.2

p.N236S

c.707A>G

1 paper

NM_001080779.2

p.R235Q

c.704G>A

1 paper

NM_001080779.2

p.G233V

c.698G>T

1 paper

NM_001080779.2

p.H229R

c.686A>G