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

1–12 of 432 variants

12 papers

NM_005876.5

p.G2757V

c.8270G>T

10 papers

NM_005876.5

p.R1426*

c.4276C>T

10 papers

NM_005876.5

p.R1467*

c.4399C>T

10 papers

NM_005876.5

p.V3062del1

c.9184_9185delGTG

10 papers

NM_005876.5

p.R3196*

c.9586C>T

9 papers

NM_005876.5

p.A972Fs

c.2915_2916delinsAFs

9 papers

NM_005876.5

p.E1680K

c.5038G>A

9 papers

NM_005876.5

p.Q2233*

c.6697C>T

9 papers

NM_005876.5

p.Y2373*

c.7119C>A

9 papers

NM_005876.5

p.Y2373*

c.7119C>G

8 papers

NM_005876.5

p.K357_S358insFs

c.1071_1074dup4

8 papers

NM_005876.5

p.T2904A

c.8710A>G