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.D2620Splc

c.7859-61G>A

Surrounding Variants

1 paper

NM_005876.5

p.D2620Splc

c.7858+72A>G

1 paper

NM_005876.5

p.K2622_S2623insC

c.7864_7868ins3

1 paper

NM_005876.5

p.S2623Y

c.7868C>A

1 paper

NM_005876.5

p.S2634F

c.7901C>T

1 paper

NM_005876.5

p.K2636N

c.7908A>C

1 paper

NM_005876.5

p.K2636N

c.7908A>T

1 paper

NM_005876.5

p.R2639Q

c.7916G>A

1 paper

NM_005876.5

p.R2646L

c.7937G>T

2 papers

NM_005876.5

p.I2615V

c.7843A>G

3 papers

NM_005876.5

p.A2652T

c.7954G>A

1 paper

NM_005876.5

p.L2604F

c.7810C>T

1 paper

NM_005876.5

p.T2602I

c.7805C>T