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

8 papers

NM_053025.4

p.L17F

c.49C>T

Surrounding Variants

1 paper

NM_053025.4

p.S13A

c.37T>G

1 paper

NM_053025.4

p.P21S

c.61C>T

1 paper

NM_053025.4

p.I12I

c.36T>A

16 papers

NM_053025.4

p.P21H

c.62C>A

1 paper

NM_053025.4

p.S22A

c.64T>G

1 paper

NM_053025.4

p.H11L

c.32A>T

1 paper

NM_053025.4

p.R23K

c.68G>A

1 paper

NM_053025.4

p.R23fs

c.67_68fs

1 paper

NM_053025.4

p.S9L

c.26C>T

1 paper

NM_053025.4

p.S9T

c.25T>A

1 paper

NM_053025.4

p.S26P

c.76T>C

1 paper

NM_053025.4

p.S26insFs

c.76dupT