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.E271delFs

c.811delC

Surrounding Variants

1 paper

NM_000158.4

p.E271fs

c.811_812fs

1 paper

NM_000158.4

p.Q270*

c.808C>T

1 paper

NM_000158.4

p.V273V

c.819A>G

2 papers

NM_000158.4

p.A276P

c.826G>C

1 paper

NM_000158.4

p.T265S

c.793A>T

3 papers

NM_000158.4

p.G264E

c.791G>A

1 paper

NM_000158.4

p.G264R

c.790G>C

1 paper

NM_000158.4

p.G264R

c.790G>A

3 papers

NM_000158.4

p.G280D

c.839G>A

1 paper

NM_000158.4

p.R262H

c.785G>A

10 papers

NM_000158.4

p.R262C

c.784C>T

7 papers

NM_000158.4

p.S261Splc

c.783-1G>A