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.F257L

c.771T>G

Surrounding Variants

8 papers

NM_000158.4

p.F257L

c.771T>A

1 paper

NM_000158.4

p.F257S

c.770T>C

7 papers

NM_000158.4

p.F257L

c.769T>C

1 paper

NM_000158.4

p.A259G

c.776C>G

1 paper

NM_000158.4

p.T254I

c.761C>T

14 papers

NM_000158.4

p.T254A

c.760A>G

1 paper

NM_000158.4

p.S261Splc

c.782+1G>A

1 paper

NM_000158.4

p.S248S

c.744C>T

1 paper

NM_000158.4

p.A247V

c.740C>T

10 papers

NM_000158.4

p.H243R

c.728A>G

5 papers

NM_000158.4

p.E242Q

c.724G>C

11 papers

NM_000158.4

p.Q236H

c.708G>T