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

1–12 of 258 variants

4 papers

NM_001080779.2

p.K758M

c.2273A>T

3 papers

NM_001080779.2

p.R98W

c.292C>T

3 papers

NM_001080779.2

p.Q826R

c.2477A>G

3 papers

NM_001080779.2

p.R938W

c.2812C>T

3 papers

NM_001080779.2

p.D974Y

c.2920G>T

3 papers

NM_001080779.2

p.V993L

c.2977G>T

3 papers

NM_001080779.2

p.V993L

c.2977G>C

2 papers

NM_001080779.2

p.R103C

c.307C>T

2 papers

NM_001080779.2

p.P179Q

c.536C>A

2 papers

NM_001080779.2

p.H238Y

c.712C>T

2 papers

NM_001080779.2

p.V268M

c.802G>A

2 papers

NM_001080779.2

p.V287I

c.859G>A