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

9 papers

NM_005876.5

p.A972Fs

c.2915_2916delinsAFs

Surrounding Variants

1 paper

NM_005876.5

p.A972D

c.2915C>A

5 papers

NM_005876.5

p.A972fs

c.2914_2915fs

1 paper

NM_005876.5

p.A972delFs

c.2915_2916delCC

5 papers

NM_005876.5

p.A972fs

c.2914_2915fs

1 paper

NM_005876.5

p.L971delFs

c.2913delG

1 paper

NM_005876.5

p.V970M

c.2908G>A

1 paper

NM_005876.5

p.A969V

c.2906C>T

1 paper

NM_005876.5

p.R966W

c.2896C>T

1 paper

NM_005876.5

p.V979M

c.2935G>A

1 paper

NM_005876.5

p.A981fs

c.2941_2942fs

1 paper

NM_005876.5

p.G982R

c.2944G>A

1 paper

NM_005876.5

p.G982R

c.2944G>C