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.L2074Q

c.6221T>A

Surrounding Variants

1 paper

NM_005876.5

p.P2079P

c.6237C>T

1 paper

NM_005876.5

p.R2055W

c.6163C>T

1 paper

NM_005876.5

p.G2097delFs

c.6290delG

1 paper

NM_005876.5

p.G2097fs

c.6289_6290fs

1 paper

NM_005876.5

p.S2047G

c.6139A>G

1 paper

NM_005876.5

p.P2102S

c.6304C>T

1 paper

NM_005876.5

p.R2044Q

c.6131G>A

1 paper

NM_005876.5

p.A2107_A2108insAGG

c.6319_6323ins9

1 paper

NM_005876.5

p.H2115P

c.6344A>C

1 paper

NM_005876.5

p.R2026G

c.6076C>G

1 paper

NM_005876.5

p.R2022W

c.6064C>T

1 paper

NM_005876.5

p.R2006insFs

c.6017_6018insCT