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.D1086N

c.3256G>A

Surrounding Variants

2 papers

NM_053025.4

p.T1085A

c.3253A>G

1 paper

NM_053025.4

p.R1090T

c.3269G>C

5 papers

NM_053025.4

p.S1091*

c.3272C>G

5 papers

NM_053025.4

p.S1091*

c.3272C>A

1 paper

NM_053025.4

p.S1091delFs

c.3272delG

1 paper

NM_053025.4

p.E1092Q

c.3274G>C

3 papers

NM_053025.4

p.S1091delFs

c.3272_3273delTG

1 paper

NM_053025.4

p.G1095delFs

c.3285delC

1 paper

NM_053025.4

p.T1096fs

c.3286_3287fs

1 paper

NM_053025.4

p.V1075A

c.3224T>C

1 paper

NM_053025.4

p.N1073_D1074insFs

c.3219_3222dup4

1 paper

NM_053025.4

p.K1101R

c.3302A>G