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.P39fs

c.115_116fs

Surrounding Variants

1 paper

NM_053025.4

p.P39delFs

c.116delG

1 paper

NM_053025.4

p.P38insFs

c.113_114insTG

1 paper

NM_053025.4

p.R40W

c.118C>T

1 paper

NM_053025.4

p.L37delFs

c.111delC

1 paper

NM_053025.4

p.L37S

c.110T>C

1 paper

NM_053025.4

p.C43S

c.128G>C

1 paper

NM_053025.4

p.A32D

c.95C>A

1 paper

NM_053025.4

p.A32T

c.94G>A

1 paper

NM_053025.4

p.E31A

c.92A>C

1 paper

NM_053025.4

p.E31Q

c.91G>C

1 paper

NM_053025.4

p.E31K

c.91G>A

1 paper

NM_053025.4

p.P28_T30del0

c.83_88del6