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.E201G

c.602A>G

Surrounding Variants

1 paper

NM_000158.4

p.S202S

c.606T>G

2 papers

NM_000158.4

p.H203N

c.607C>A

2 papers

NM_000158.4

p.H203P

c.608A>C

2 papers

NM_000158.4

p.V204L

c.610G>T

1 paper

NM_000158.4

p.V204L

c.610G>C

1 paper

NM_000158.4

p.S202_H203del2

c.604_608del6

1 paper

NM_000158.4

p.R198T

c.593G>C

2 papers

NM_000158.4

p.R198*

c.592A>T

1 paper

NM_000158.4

p.R195W

c.583C>T

2 papers

NM_000158.4

p.K193K

c.579G>A

1 paper

NM_000158.4

p.P191L

c.572C>T

1 paper

NM_000158.4

p.R190*

c.568A>T