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.R2847Q

c.8540G>A

Surrounding Variants

1 paper

NM_005876.5

p.R2847*

c.8539C>T

1 paper

NM_005876.5

p.A2858V

c.8573C>T

1 paper

NM_005876.5

p.A2858A

c.8574G>A

1 paper

NM_005876.5

p.S2834L

c.8501C>T

1 paper

NM_005876.5

p.T2826fs

c.8476_8477fs

2 papers

NM_005876.5

p.S2823Y

c.8468C>A

1 paper

NM_005876.5

p.S2823P

c.8467T>C

1 paper

NM_005876.5

p.V2819fs

c.8455_8456fs

1 paper

NM_005876.5

p.T2818_V2819insFs

c.8454_8455insC

1 paper

NM_005876.5

p.P2815L

c.8444C>T

1 paper

NM_005876.5

p.P2815T

c.8443C>A

1 paper

NM_005876.5

p.P2884Q

c.8651C>A