Varaico: Literature-Extracted Genetic Variants

Gene:AGBL2
Variant:p.D284E

AGBL2

111 papers

Pfam Domains

Pepdidase_M14_Naa 268–395UCSCCytosolic carboxypeptidase N-terminal domain
Peptidase_M14aa 413–577UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

AGBL carboxypeptidase 2

HGNC Alias Symbols

FLJ23598; CCP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024783.4
p.D284E
c.852C>G
Surrounding Variants
1 paper
NM_024783.4
p.D284E
c.852C>A
1 paper
NM_024783.4
p.T298S
c.892A>T
1 paper
NM_024783.4
p.W304L
c.911G>T
1 paper
NM_024783.4
p.R319C
c.955C>T
1 paper
NM_024783.4
p.R319H
c.956G>A
1 paper
NM_024783.4
p.L331_Y332delFs
c.993_994delAA
1 paper
NM_024783.4
p.T333fs
c.997_998fs
3 papers
NM_024783.4
p.R349H
c.1046G>A
1 paper
NM_024783.4
p.I351F
c.1051A>T
1 paper
NM_024783.4
p.C376Y
c.1127G>A
1 paper
NM_024783.4
p.L377P
c.1130T>C
1 paper
NM_024783.4
p.T378M
c.1133C>T
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