Varaico: Literature-Extracted Genetic Variants

EPM2AIP1

39 papers

RefSeq Summary

The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is no...

Pfam Domains

zf-C2H2_12aa 19–82UCSCSpin-doc/GT2D2, zinc finger domain

FAM200-ZBED5_RNase-likeaa 93–266UCSCFAM200/ZBED5 RNase-like

FAM200-GTF2IRD2-likeaa 279–427UCSCFAM200/GTF2IRD2 RNase-like helical

Gene Aliases

HGNC Name

EPM2A interacting protein 1

HGNC Alias Symbols

KIAA0766; FLJ11207

Papers

RefSeq ID

Protein change

DNA change

1–12 of 24 variants

3 papers

NM_014805.4

p.Y520*

c.1560C>G

3 papers

NM_014805.4

p.Y520*

c.1560C>A

1 paper

NM_014805.4

p.M3V

c.7A>G

1 paper

NM_014805.4

p.K9N

c.27G>T

1 paper

NM_014805.4

p.K9N

c.27G>C

1 paper

NM_014805.4

p.M10V

c.28A>G

1 paper

NM_014805.4

p.E21*

c.61G>T

1 paper

NM_014805.4

p.Y26N

c.76T>A

1 paper

NM_014805.4

p.H62Y

c.184C>T

1 paper

NM_014805.4

p.D71G

c.212A>G

1 paper

NM_014805.4

p.S90C

c.269C>G

1 paper

NM_014805.4

p.V139A

c.416T>C