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.V437G

c.1310T>G

Surrounding Variants

1 paper

NM_053025.4

p.S438S

c.1314C>T

1 paper

NM_053025.4

p.P441L

c.1322C>T

5 papers

NM_053025.4

p.P443S

c.1327C>T

2 papers

NM_053025.4

p.P443T

c.1327C>A

1 paper

NM_053025.4

p.E444insFs

c.1330_1331insCC

1 paper

NM_053025.4

p.L449R

c.1346T>G

2 papers

NM_053025.4

p.E450*

c.1348G>T

1 paper

NM_053025.4

p.E450_T452del0

c.1349_1354del6

1 paper

NM_053025.4

p.P453P

c.1359C>A

1 paper

NM_053025.4

p.A467V

c.1400C>T

2 papers

NM_053025.4

p.G468S

c.1402G>A

1 paper

NM_053025.4

p.G468A

c.1403G>C