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.N491S

c.1472A>G

Surrounding Variants

1 paper

NM_053025.4

p.N491K

c.1473C>G

1 paper

NM_053025.4

p.N491K

c.1473C>A

1 paper

NM_053025.4

p.G494R

c.1480G>C

1 paper

NM_053025.4

p.G494D

c.1481G>A

1 paper

NM_053025.4

p.C487S

c.1460G>C

1 paper

NM_053025.4

p.C487Y

c.1460G>A

1 paper

NM_053025.4

p.C487S

c.1459T>A

10 papers

NM_001321309.2

p.L320V

c.958C>G

NM_053025.4

p.L496V

c.1486C>G

1 paper

NM_053025.4

p.S486R

c.1458C>G

1 paper

NM_053025.4

p.S486R

c.1458C>A

1 paper

NM_053025.4

p.S486R

c.1456A>C

1 paper

NM_053025.4

p.D481V

c.1442A>T