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.A2445V

c.7334C>T

Surrounding Variants

1 paper

NM_005876.5

p.H2426P

c.7277A>C

1 paper

NM_005876.5

p.S2466delFs

c.7396delA

1 paper

NM_005876.5

p.P2421L

c.7262C>T

2 papers

NM_005876.5

p.R2470S

c.7408C>A

1 paper

NM_005876.5

p.G2472V

c.7415G>T

1 paper

NM_005876.5

p.S2477fs

c.7429_7430fs

1 paper

NM_005876.5

p.S2477insFs

c.7431dupG

1 paper

NM_005876.5

p.S2481L

c.7442C>T

1 paper

NM_005876.5

p.R2490_L2491insT

c.7468_7472ins3

1 paper

NM_005876.5

p.Q2395*

c.7183C>T

1 paper

NM_005876.5

p.R2392S

c.7174C>A

1 paper

NM_005876.5

p.P2388S

c.7162C>T