Varaico: Literature-Extracted Genetic Variants

Gene:CPN2
Variant:p.T482N

CPN2

53 papers

Pfam Domains

LRR_8aa 146–205UCSCLeucine rich repeat
LRR_8aa 193–253UCSCLeucine rich repeat
LRR_8aa 242–301UCSCLeucine rich repeat
LRR_8aa 291–349UCSCLeucine rich repeat
LRR_8aa 337–396UCSCLeucine rich repeat

Gene Aliases

HGNC Name

carboxypeptidase N subunit 2

HGNC Previous Symbol

ACBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080513.4
p.T482N
c.1445C>A
Surrounding Variants
1 paper
NM_001080513.4
p.R478Q
c.1433G>A
1 paper
NM_001080513.4
p.A464E
c.1391C>A
1 paper
NM_001080513.4
p.E461K
c.1381G>A
1 paper
NM_001080513.4
p.T457M
c.1370C>T
6 papers
NM_001080513.4
p.Q509*
c.1525C>T
2 papers
NM_001080513.4
p.Q509R
c.1526A>G
2 papers
NM_001080513.4
p.Q509delins
c.1525_1526delinsTG
1 paper
NM_001080513.4
p.E522G
c.1565A>G
1 paper
NM_001080513.4
p.A437T
c.1309G>A
1 paper
NM_001080513.4
p.R533W
c.1597C>T
1 paper
NM_001080513.4
p.V536M
c.1606G>A
1 paper
NM_001080513.4
p.I538T
c.1613T>C
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