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.D270E

c.810T>G

Surrounding Variants

1 paper

NM_053025.4

p.D270E

c.810T>A

1 paper

NM_053025.4

p.V271D

c.812T>A

1 paper

NM_053025.4

p.S269L

c.806C>T

2 papers

NM_053025.4

p.E274*

c.820G>T

1 paper

NM_053025.4

p.T267A

c.799A>G

1 paper

NM_053025.4

p.V275delFs

c.824delA

1 paper

NM_053025.4

p.E274_T276del0

c.821_826del6

1 paper

NM_053025.4

p.E274_T276del3

c.820_827del9

1 paper

NM_053025.4

p.T264A

c.790A>G

1 paper

NM_053025.4

p.V278L

c.832G>T

1 paper

NM_053025.4

p.V278L

c.832G>C

1 paper

NM_053025.4

p.V278I

c.832G>A