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

9 papers

NM_005876.5

p.E1680K

c.5038G>A

Surrounding Variants

1 paper

NM_005876.5

p.R1697W

c.5089C>T

1 paper

NM_005876.5

p.R1701W

c.5101C>T

1 paper

NM_005876.5

p.K1721_P1722Splc

c.5163+11G>T

1 paper

NM_005876.5

p.D1729Y

c.5185G>T

1 paper

NM_005876.5

p.G1743R

c.5227G>A

1 paper

NM_005876.5

p.G1743R

c.5227G>C

1 paper

NM_005876.5

p.E1762Q

c.5284G>C

1 paper

NM_005876.5

p.W1781*

c.5342G>A

1 paper

NM_005876.5

p.W1781*

c.5343G>A

1 paper

NM_005876.5

p.Y1659C

c.4976A>G

1 paper

NM_005876.5

p.H1654Q

c.4962C>A

1 paper

NM_005876.5

p.H1654Q

c.4962C>G