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

1–12 of 339 variants

79 papers

NM_000158.4

p.Y329S

c.986A>C

33 papers

NM_000158.4

p.G231Splc

c.691+2T>C

26 papers

NM_000158.4

p.R515H

c.1544G>A

26 papers

NM_000158.4

p.R524Q

c.1571G>A

21 papers

NM_000158.4

p.Y329C

c.986A>G

18 papers

NM_000158.4

p.R524*

c.1570C>T

17 papers

NM_000158.4

p.L224P

c.671T>C

16 papers

NM_000158.4

p.R515C

c.1543C>T

15 papers

NM_000158.4

p.Q236H

c.708G>C

15 papers

NM_000158.4

p.H628R

c.1883A>G

14 papers

NM_000158.4

p.T254A

c.760A>G

11 papers

NM_000158.4

p.R190G

c.568A>G