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.V1906V

c.5718G>T

Surrounding Variants

3 papers

NM_005876.5

p.R1903W

c.5707C>T

1 paper

NM_005876.5

p.A1899P

c.5695G>C

1 paper

NM_005876.5

p.R1898_A1899insFs

c.5694_5695insC

1 paper

NM_005876.5

p.S1924Y

c.5771C>A

2 papers

NM_005876.5

p.R1879C

c.5635C>T

1 paper

NM_005876.5

p.R1937C

c.5809C>T

1 paper

NM_005876.5

p.Q1940*

c.5818C>T

1 paper

NM_005876.5

p.T1955N

c.5864C>A

1 paper

NM_005876.5

p.E1964G

c.5891A>G

1 paper

NM_005876.5

p.W1973C

c.5919G>C

1 paper

NM_005876.5

p.W1973C

c.5919G>T

1 paper

NM_005876.5

p.Q1976R

c.5927A>G