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.Q707R

c.2120A>G

Surrounding Variants

1 paper

NM_053028.4

p.Q638*

c.1912C>T

1 paper

NM_053025.4

p.R705C

c.2113C>T

1 paper

NM_053025.4

p.T711M

c.2132C>T

2 papers

NM_053025.4

p.A701T

c.2101G>A

1 paper

NM_053025.4

p.S700N

c.2099G>A

1 paper

NM_053025.4

p.T694A

c.2080A>G

3 papers

NM_053025.4

p.T690M

c.2069C>T

3 papers

NM_053026.4

p.G606R

c.1816G>C

NM_053025.4

p.G675R

c.2023G>C

3 papers

NM_053026.4

p.G606R

c.1816G>A

NM_053025.4

p.G675R

c.2023G>A

2 papers

NM_053025.4

p.F669V

c.2005T>G

1 paper

NM_053025.4

p.Q664R

c.1991A>G

1 paper

NM_053025.4

p.V654_W656del3

c.1960_1967del9