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

7 papers

NM_000158.4

p.H520delFs

c.1558delG

Surrounding Variants

1 paper

NM_000158.4

p.L519fs

c.1555_1556fs

2 papers

NM_000158.4

p.K521*

c.1561A>T

2 papers

NM_000158.4

p.K521E

c.1561A>G

1 paper

NM_000158.4

p.M522K

c.1565T>A

18 papers

NM_000158.4

p.R524*

c.1570C>T

26 papers

NM_000158.4

p.R524Q

c.1571G>A

26 papers

NM_000158.4

p.R515H

c.1544G>A

16 papers

NM_000158.4

p.R515C

c.1543C>T

3 papers

NM_000158.4

p.R515G

c.1543C>G

2 papers

NM_000158.4

p.T527M

c.1580C>T

1 paper

NM_000158.4

p.H528R

c.1583A>G

4 papers

NM_000158.4

p.T507A

c.1519A>G