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.R2354H

c.7061G>A

Surrounding Variants

1 paper

NM_005876.5

p.E2369del1

c.7105_7106delGAG

9 papers

NM_005876.5

p.Y2373*

c.7119C>A

9 papers

NM_005876.5

p.Y2373*

c.7119C>G

3 papers

NM_005876.5

p.I2324N

c.6971T>A

1 paper

NM_005876.5

p.V2385L

c.7153G>C

1 paper

NM_005876.5

p.V2385L

c.7153G>T

1 paper

NM_005876.5

p.P2388S

c.7162C>T

1 paper

NM_005876.5

p.R2392S

c.7174C>A

1 paper

NM_005876.5

p.Q2395*

c.7183C>T

1 paper

NM_005876.5

p.E2305K

c.6913G>A

1 paper

NM_005876.5

p.G2299G

c.6897T>C

1 paper

NM_005876.5

p.G2299C

c.6895G>T