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

12 papers

NM_005876.5

p.G2757V

c.8270G>T

Surrounding Variants

1 paper

NM_005876.5

p.P2758R

c.8273C>G

1 paper

NM_005876.5

p.C2750R

c.8248T>C

2 papers

NM_005876.5

p.R2747H

c.8240G>A

1 paper

NM_005876.5

p.R2745G

c.8233A>G

1 paper

NM_005876.5

p.V2740I

c.8218G>A

1 paper

NM_005876.5

p.S2726L

c.8177C>T

1 paper

NM_005876.5

p.E2718delFs

c.8153delA

2 papers

NM_005876.5

p.S2774Y

c.8321C>A

6 papers

NM_005876.5

p.R2790G

c.8368A>G

1 paper

NM_005876.5

p.P2791_A2792insC

c.8371_8375ins3

1 paper

NM_005876.5

p.A2792S

c.8374G>T

1 paper

NM_005876.5

p.G2717R

c.8149G>A