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.I345I

c.1035C>T

Surrounding Variants

1 paper

NM_053025.4

p.S344F

c.1031C>T

1 paper

NM_053025.4

p.S342T

c.1024T>A

1 paper

NM_053025.4

p.A349A

c.1047C>T

1 paper

NM_053025.4

p.A350P

c.1048G>C

1 paper

NM_053025.4

p.A350T

c.1048G>A

1 paper

NM_053025.4

p.T341A

c.1021A>G

1 paper

NM_053025.4

p.P354L

c.1061C>T

4 papers

NM_053025.4

p.P336L

c.1007C>T

4 papers

NM_053025.4

p.T335T

c.1005C>T

1 paper

NM_053025.4

p.E355delFs

c.1064_1065delTT

1 paper

NM_053025.4

p.P356delFs

c.1067delG

2 papers

NM_053025.4

p.P333delFs

c.997delG