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.V993L

c.2977G>T

Surrounding Variants

3 papers

NM_001080779.2

p.V993L

c.2977G>C

1 paper

NM_001080779.2

p.N1011K

c.3033C>G

1 paper

NM_001080779.2

p.N1011K

c.3033C>A

1 paper

NM_001080779.2

p.Q1020R

c.3059A>G

1 paper

NM_001080779.2

p.S1022Splc

c.3065+2T>G

1 paper

NM_001080779.2

p.G1028A

c.3083G>C

1 paper

NM_001080779.2

p.P1029S

c.3085C>T

1 paper

NM_001080779.2

p.R1031S

c.3093G>T

1 paper

NM_001080779.2

p.R1031S

c.3093G>C

1 paper

NM_001080779.2

p.D1036N

c.3106G>A

1 paper

NM_001080779.2

p.P1039R

c.3116C>G

1 paper

NM_001080779.2

p.S1041P

c.3121T>C