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

1 paper

NM_000158.4

p.P546_K554insFs

c.1638_1660dup23

Surrounding Variants

5 papers

NM_000158.4

p.N556Y

c.1666A>T

8 papers

NM_000158.4

p.P552L

c.1655C>T

1 paper

NM_000158.4

p.N557K

c.1671T>G

1 paper

NM_000158.4

p.N557K

c.1671T>A

6 papers

NM_000158.4

p.W548*

c.1644G>A

1 paper

NM_000158.4

p.W548L

c.1643G>T

7 papers

NM_000158.4

p.W548*

c.1643G>A

2 papers

NM_000158.4

p.Y560*

c.1680C>G

2 papers

NM_000158.4

p.Y560*

c.1680C>A

11 papers

NM_000158.4

p.H545R

c.1634A>G

1 paper

NM_000158.4

p.H545Y

c.1633C>T

5 papers

NM_000158.4

p.R565W

c.1693C>T