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

1–12 of 578 variants

20 papers

NM_053025.4

p.P147S

c.439C>T

16 papers

NM_053025.4

p.P21H

c.62C>A

15 papers

NM_053025.4

p.V261A

c.782T>C

13 papers

NM_053025.4

p.S1759P

c.5275T>C

10 papers

NM_053025.4

p.L496V

c.1486C>G

8 papers

NM_053025.4

p.L17F

c.49C>T

7 papers

NM_053025.4

p.R1480*

c.4438C>T

5 papers

NM_053025.4

p.P443S

c.1327C>T

5 papers

NM_053025.4

p.W656C

c.1968G>T

5 papers

NM_053025.4

p.W656C

c.1968G>C

5 papers

NM_053025.4

p.S1091*

c.3272C>G

5 papers

NM_053025.4

p.S1091*

c.3272C>A