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

79 papers

NM_000158.4

p.Y329S

c.986A>C

Surrounding Variants

1 paper

NM_000158.4

p.Y329F

c.986A>T

21 papers

NM_000158.4

p.Y329C

c.986A>G

1 paper

NM_000158.4

p.Y329D

c.985T>G

1 paper

NM_000158.4

p.D323N

c.967G>A

1 paper

NM_000158.4

p.D320G

c.959A>G

1 paper

NM_000158.4

p.D320N

c.958G>A

1 paper

NM_000158.4

p.H319Q

c.957T>G

1 paper

NM_000158.4

p.H319Q

c.957T>A

6 papers

NM_000158.4

p.H319R

c.956A>G

1 paper

NM_000158.4

p.H319P

c.956A>C

4 papers

NM_000158.4

p.H319Y

c.955C>T

1 paper

NM_000158.4

p.G317E

c.950G>A