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.E609*

c.1825G>T

Surrounding Variants

7 papers

NM_000158.4

p.E609K

c.1825G>A

1 paper

NM_000158.4

p.H608Q

c.1824T>G

1 paper

NM_000158.4

p.H608Q

c.1824T>A

1 paper

NM_000158.4

p.S605C

c.1813A>T

3 papers

NM_000158.4

p.A615P

c.1843G>C

1 paper

NM_000158.4

p.A602insFs

c.1804_1805ins43

2 papers

NM_000158.4

p.L622del1

c.1864_1866delAAG

15 papers

NM_000158.4

p.H628R

c.1883A>G

1 paper

NM_000158.4

p.H628Q

c.1884T>G

11 papers

NM_000158.4

p.R637*

c.1909C>T

2 papers

NM_000158.4

p.Q601_A602Splc

c.1803+2T>C

1 paper

NM_000158.4

p.A598E

c.1793C>A