Varaico: Literature-Extracted Genetic Variants

SPEG

276 papers

RefSeq Summary

This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expres...

Pfam Domains

I-setaa 43–125UCSCImmunoglobulin I-set domain

I-setaa 722–811UCSCImmunoglobulin I-set domain

SPEG_u2aa 812–868UCSCUnstructured region on SPEG complex protein

I-setaa 869–959UCSCImmunoglobulin I-set domain

I-setaa 968–1058UCSCImmunoglobulin I-set domain

I-setaa 1064–1153UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

striated muscle enriched protein kinase

HGNC Previous Symbol

APEG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005876.5

p.T3169M

c.9506C>T

Surrounding Variants

1 paper

NM_005876.5

p.T3169R

c.9506C>G

1 paper

NM_005876.5

p.R3172Q

c.9515G>A

1 paper

NM_005876.5

p.R3158H

c.9473G>A

1 paper

NM_005876.5

p.R3158C

c.9472C>T

1 paper

NM_005876.5

p.S3190S

c.9570C>T

1 paper

NM_005876.5

p.T3192N

c.9575C>A

10 papers

NM_005876.5

p.R3196*

c.9586C>T

1 paper

NM_005876.5

p.M3154Splc

c.9461+41C>T

1 paper

NM_005876.5

p.G3146R

c.9436G>A

1 paper

NM_005876.5

p.G3146R

c.9436G>C

1 paper

NM_005876.5

p.E3131K

c.9391G>A

1 paper

NM_005876.5

p.A3129Splc

c.9386-67G>C