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

4 papers

NM_053025.4

p.D393_V394del1

c.1179_1181delACA

Surrounding Variants

1 paper

NM_053025.4

p.D393_V394del2

c.1177_1181del6

1 paper

NM_053025.4

p.V394_V395del2

c.1180_1184del6

1 paper

NM_053025.4

p.S396N

c.1187G>A

1 paper

NM_053025.4

p.D393insFs

c.1179dupT

1 paper

NM_053025.4

p.D393insFs

c.1177dupG

1 paper

NM_053025.4

p.R401R

c.1203G>A

1 paper

NM_053025.4

p.P387T

c.1159C>A

4 papers

NM_053025.4

p.M405V

c.1213A>G

1 paper

NM_053025.4

p.D410N

c.1228G>A

1 paper

NM_053025.4

p.D410insFs

c.1228dupG

4 papers

NM_053025.4

p.R378H

c.1133G>A

1 paper

NM_053025.4

p.F416S

c.1247T>C