Varaico: Literature-Extracted Genetic Variants

MYLK

523 papers

RefSeq Summary

This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light ...

Pfam Domains

I-setaa 33–123UCSCImmunoglobulin I-set domain

I-setaa 161–250UCSCImmunoglobulin I-set domain

23ISLaa 267–412UCSCUnstructured linker between I-set domains 2 and 3 on MYLCK

I-setaa 414–504UCSCImmunoglobulin I-set domain

I-setaa 514–600UCSCImmunoglobulin I-set domain

I-setaa 623–712UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

myosin light chain kinase

HGNC Alias Symbols

MLCK; smMLCK; MYLK1; MLCK1; KRP; Telokin; MLCK108; MLCK210; MYLK-L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_053025.4

p.R169*

c.505C>T

Surrounding Variants

1 paper

NM_053025.4

p.R169G

c.505C>G

1 paper

NM_053025.4

p.R169R

c.505C>A

2 papers

NM_053025.4

p.T165delFs

c.493delT

3 papers

NM_053025.4

p.T165fs

c.493_494fs

1 paper

NM_053025.4

p.A164insFs

c.492dupT

1 paper

NM_053025.4

p.G175R

c.523G>A

1 paper

NM_053025.4

p.P161T

c.481C>A

1 paper

NM_053025.4

p.P160L

c.479C>T

1 paper

NM_053025.4

p.P160R

c.479C>G

1 paper

NM_053025.4

p.G178E

c.533G>A

1 paper

NM_053025.4

p.R179*

c.535C>T

1 paper

NM_053025.4

p.E158D

c.474G>T