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

3 papers

NM_001080779.2

p.R938W

c.2812C>T

Surrounding Variants

1 paper

NM_001080779.2

p.Q939R

c.2816A>G

1 paper

NM_001080779.2

p.T943M

c.2828C>T

1 paper

NM_001080779.2

p.K931N

c.2793G>T

1 paper

NM_001080779.2

p.K931N

c.2793G>C

1 paper

NM_001080779.2

p.R930H

c.2789G>A

1 paper

NM_001080779.2

p.A946T

c.2836G>A

1 paper

NM_001080779.2

p.D929N

c.2785G>A

1 paper

NM_001080779.2

p.V948I

c.2842G>A

1 paper

NM_033375.5

p.V915L

c.2743G>T

1 paper

NM_033375.5

p.V915L

c.2743G>C

1 paper

NM_001080779.2

p.A922V

c.2765C>T

1 paper

NM_001080779.2

p.K956K

c.2868G>A