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

2 papers

NM_053025.4

p.A1491S

c.4471G>T

Surrounding Variants

2 papers

NM_053025.4

p.R1487*

c.4459C>T

1 paper

NM_053025.4

p.V1482fs

c.4444_4445fs

1 paper

NM_053025.4

p.R1480Q

c.4439G>A

7 papers

NM_053025.4

p.R1480*

c.4438C>T

1 paper

NM_053025.4

p.R1507W

c.4519C>T

1 paper

NM_053025.4

p.Q1508_S1511del4

c.4522_4532del12

1 paper

NM_053025.4

p.P1519T

c.4555C>A

1 paper

NM_053025.4

p.V1522F

c.4564G>T

1 paper

NM_053025.4

p.L1538R

c.4613T>G

1 paper

NM_053025.4

p.S1472Splc

c.4415+1G>A

1 paper

NM_053025.4

p.Q1458*

c.4372C>T

3 papers

NM_053025.4

p.R1450Q

c.4349G>A