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.R813C

c.2437C>T

Surrounding Variants

1 paper

NM_001080779.2

p.R813H

c.2438G>A

1 paper

NM_001080779.2

p.H811N

c.2431C>A

1 paper

NM_001080779.2

p.S815insFs

c.2444_2445insT

1 paper

NM_001080779.2

p.D810G

c.2429A>G

1 paper

NM_001080779.2

p.L809M

c.2425C>A

3 papers

NM_001080779.2

p.Q826R

c.2477A>G

1 paper

NM_001080779.2

p.Q826P

c.2477A>C

2 papers

NM_001080779.2

p.V795I

c.2383G>A

1 paper

NM_001080779.2

p.I791insFs

c.2372_2373insT

1 paper

NM_001080779.2

p.T835T

c.2505G>A

1 paper

NM_001080779.2

p.P838P

c.2514T>A

1 paper

NM_001080779.2

p.L840M

c.2518C>A