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

5 papers

NM_005876.5

p.H3079R

c.9236A>G

Surrounding Variants

1 paper

NM_005876.5

p.P3088T

c.9262C>A

1 paper

NM_005876.5

p.V3062L

c.9184G>C

1 paper

NM_005876.5

p.V3062L

c.9184G>T

10 papers

NM_005876.5

p.V3062del1

c.9184_9185delGTG

1 paper

NM_005876.5

p.Q3108R

c.9323A>G

1 paper

NM_005876.5

p.R3121H

c.9362G>A

1 paper

NM_005876.5

p.R3054T

c.9161G>C

1 paper

NM_005876.5

p.L3035L

c.9105C>T

1 paper

NM_005876.5

p.R3033W

c.9097C>T

1 paper

NM_005876.5

p.T3031A

c.9091A>G

1 paper

NM_005876.5

p.Y3029C

c.9086A>G

1 paper

NM_005876.5

p.R3021W

c.9061C>T