Varaico: Literature-Extracted Genetic Variants

Gene:ADPGK
Variant:p.L250_E251ins4

ADPGK

39 papers

RefSeq Summary

ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [Pub...

Pfam Domains

ADP_PFK_GKaa 73–490UCSCADP-specific Phosphofructokinase/Glucokinase conserved region

Gene Aliases

HGNC Name

ADP dependent glucokinase

HGNC Alias Symbols

DKFZp434B195; ADP-GK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001365225.1
p.L250_E251ins4
c.748_752ins12
Surrounding Variants
1 paper
NM_001365225.1
p.L250_E251insG
c.748_752ins3
1 paper
NM_001365225.1
p.L250_E251insGC
c.748_752ins6
1 paper
NM_001365225.1
p.L250_E251insCCC
c.748_752ins9
1 paper
NM_001365225.1
p.M240_S249del10
c.718_746del30
1 paper
NM_001365225.1
p.Q254_M266del13
c.760_797del39
1 paper
NM_001365225.1
p.R228*
c.682C>T
1 paper
NM_001365225.1
p.P317L
c.950C>T
1 paper
NM_001365225.1
p.S344F
c.1031C>T
1 paper
NM_001365225.1
p.H437H
c.1311T>C
1 paper
NM_001365225.1
p.D481N
c.1441G>A
1 paper
NM_001365225.1
p.D481A
c.1442A>C
1 paper
NM_001365225.1
p.D481E
c.1443T>G
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