Varaico: Literature-Extracted Genetic Variants

AGL

284 papers

RefSeq Summary

This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alph...

Pfam Domains

hGDE_Naa 31–116UCSCN-terminal domain from the human glycogen debranching enzyme

hDGE_amylaseaa 120–551UCSCGlycogen debranching enzyme, glucanotransferase domain

hGDE_centralaa 697–974UCSCCentral domain of human glycogen debranching enzyme

GDE_Caa 1068–1527UCSCAmylo-alpha-1,6-glucosidase

Gene Aliases

HGNC Name

amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase

HGNC Previous Names

amylo-1, 6-glucosidase, 4-alpha-glucanotransferase; amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

Papers

RefSeq ID

Protein change

DNA change

1–12 of 876 variants

36 papers

NM_000642.3

p.R864*

c.2590C>T

35 papers

NM_000642.3

p.W1327*

c.3980G>A

29 papers

NM_000642.3

p.W1327*

c.3981G>A

24 papers

NM_000642.3

p.Q6*

c.16C>T

24 papers

NM_000642.3

p.Y1510insFs

c.4529dupA

23 papers

NM_000642.3

p.R408*

c.1222C>T

23 papers

NM_000642.3

p.E579Splc

c.1735+1G>T

22 papers

NM_000642.3

p.L1485delFs

c.4455delT

17 papers

NM_000642.3

p.S894Splc

c.2681+1G>A

17 papers

NM_000642.3

p.R1228*

c.3682C>T

16 papers

NM_000642.3

p.Q6_I7delFs

c.18_19delGA

15 papers

NM_000642.3

p.G1115R

c.3343G>A