Varaico: Literature-Extracted Genetic Variants

GBE1

365 papers

RefSeq Summary

The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the sa...

Pfam Domains

CBM_48aa 75–161UCSCCarbohydrate-binding module 48 (Isoamylase N-terminal domain)

Alpha-amylaseaa 221–334UCSCAlpha amylase, catalytic domain

Alpha-amylase_Caa 603–698UCSCAlpha amylase, C-terminal all-beta domain

Gene Aliases

HGNC Name

1,4-alpha-glucan branching enzyme 1

HGNC Previous Name

glucan (1,4-alpha-), branching enzyme 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_000158.4

p.E592*

c.1774G>T

Surrounding Variants

1 paper

NM_000158.4

p.R589G

c.1765A>G

1 paper

NM_000158.4

p.G595G

c.1785T>C

1 paper

NM_000158.4

p.W596*

c.1787G>A

1 paper

NM_000158.4

p.M587K

c.1760T>A

1 paper

NM_000158.4

p.W596*

c.1788G>A

1 paper

NM_000158.4

p.A598E

c.1793C>A

1 paper

NM_000158.4

p.R585W

c.1753A>T

1 paper

NM_000158.4

p.D584N

c.1750G>A

2 papers

NM_000158.4

p.Q601_A602Splc

c.1803+2T>C

1 paper

NM_000158.4

p.K578N

c.1734G>T

1 paper

NM_000158.4

p.K578N

c.1734G>C

7 papers

NM_000158.4

p.R565Q

c.1694G>A