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

8 papers

NM_005876.5

p.T2904A

c.8710A>G

Surrounding Variants

1 paper

NM_005876.5

p.V2907A

c.8720T>C

1 paper

NM_005876.5

p.S2908Y

c.8723C>A

1 paper

NM_005876.5

p.P2915_P2916del2

c.8743_8747del6

1 paper

NM_005876.5

p.P2918S

c.8752C>T

1 paper

NM_005876.5

p.P2884Q

c.8651C>A

1 paper

NM_005876.5

p.S2944S

c.8832C>T

1 paper

NM_005876.5

p.R2947Q

c.8840G>A

1 paper

NM_005876.5

p.A2858A

c.8574G>A

1 paper

NM_005876.5

p.A2858V

c.8573C>T

1 paper

NM_005876.5

p.G2954S

c.8860G>A

2 papers

NM_005876.5

p.R2958*

c.8872C>T

1 paper

NM_005876.5

p.R2847Q

c.8540G>A