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.L755I

c.2263C>A

Surrounding Variants

1 paper

NM_001080779.2

p.F754delFs

c.2260delA

1 paper

NM_001080779.2

p.F754fs

c.2260_2261fs

4 papers

NM_001080779.2

p.K758M

c.2273A>T

2 papers

NM_001080779.2

p.K758T

c.2273A>C

1 paper

NM_001080779.2

p.K758K

c.2274G>A

1 paper

NM_001080779.2

p.R751W

c.2251C>T

1 paper

NM_001080779.2

p.R759K

c.2276G>A

1 paper

NM_001080779.2

p.G747insFs

c.2240dupG

1 paper

NM_001080779.2

p.G747V

c.2240G>T

1 paper

NM_001080779.2

p.G747D

c.2240G>A

1 paper

NM_001080779.2

p.G747C

c.2239G>T

1 paper

NM_001080779.2

p.I762M

c.2286C>G