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.P2208L

c.6623C>T

Surrounding Variants

1 paper

NM_005876.5

p.P2203P

c.6609G>A

1 paper

NM_005876.5

p.A2202T

c.6604G>A

5 papers

NM_005876.5

p.P2189L

c.6566C>T

1 paper

NM_005876.5

p.P2230fs

c.6688_6689fs

1 paper

NM_005876.5

p.P2230L

c.6689C>T

1 paper

NM_005876.5

p.P2231insFs

c.6691dupC

1 paper

NM_005876.5

p.Q2233delFs

c.6697delC

2 papers

NM_005876.5

p.Q2233fs

c.6697_6698fs

9 papers

NM_005876.5

p.Q2233*

c.6697C>T

1 paper

NM_005876.5

p.Q2233fs

c.6697_6698fs

1 paper

NM_005876.5

p.Y2245insFs

c.6734dupA

1 paper

NM_005876.5

p.S2255*

c.6764C>A