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

2 papers

NM_005876.5

p.P2285L

c.6854C>T

Surrounding Variants

1 paper

NM_005876.5

p.P2286A

c.6856C>G

1 paper

NM_005876.5

p.G2299C

c.6895G>T

1 paper

NM_005876.5

p.G2299fs

c.6895_6896fs

1 paper

NM_005876.5

p.G2299G

c.6897T>C

1 paper

NM_005876.5

p.E2305K

c.6913G>A

1 paper

NM_005876.5

p.Q2263*

c.6787C>T

1 paper

NM_005876.5

p.P2261L

c.6782C>T

1 paper

NM_005876.5

p.H2257Y

c.6769C>T

1 paper

NM_005876.5

p.S2255*

c.6764C>A

1 paper

NM_005876.5

p.S2255*

c.6764C>G

3 papers

NM_005876.5

p.I2324N

c.6971T>A

1 paper

NM_005876.5

p.Y2245insFs

c.6734dupA