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.G1471S

c.4411G>A

Surrounding Variants

1 paper

NM_005876.5

p.T1472I

c.4415C>T

10 papers

NM_005876.5

p.R1467*

c.4399C>T

1 paper

NM_005876.5

p.L1479_E1480insC

c.4435_4439ins3

1 paper

NM_005876.5

p.A1482V

c.4445C>T

1 paper

NM_005876.5

p.M1459I

c.4377G>T

1 paper

NM_005876.5

p.M1459K

c.4376T>A

2 papers

NM_005876.5

p.R1453Q

c.4358G>A

1 paper

NM_005876.5

p.C1452F

c.4355G>T

1 paper

NM_005876.5

p.L1439delFs

c.4315_4316delCT

1 paper

NM_005876.5

p.G1435D

c.4304G>A

1 paper

NM_005876.5

p.R1433Q

c.4298G>A

10 papers

NM_005876.5

p.R1426*

c.4276C>T