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.A1826V

c.5477C>T

Surrounding Variants

1 paper

NM_053025.4

p.D1817G

c.5450A>G

1 paper

NM_053031.4

p.A38fs

c.112_113fs

1 paper

NM_053031.4

p.A38insFs

c.113_114insTG

1 paper

NM_053025.4

p.E1790_D1791del1

c.5370_5372delTCT

1 paper

NM_053025.4

p.E1790Splc

c.5368+1G>T

1 paper

NM_053025.4

p.E1787*

c.5359G>T

1 paper

NM_053025.4

p.M1763L

c.5287A>T

1 paper

NM_053025.4

p.M1763L

c.5287A>C

1 paper

NM_053025.4

p.A1762T

c.5284G>A

13 papers

NM_053025.4

p.S1759P

c.5275T>C

3 papers

NM_053025.4

p.A1754T

c.5260G>A

1 paper

NM_053025.4

p.N1750T

c.5249A>C