Varaico: Literature-Extracted Genetic Variants

Gene:CPN2
Variant:p.F357L

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.F357L
c.1069T>C
Surrounding Variants
1 paper
NM_001080513.4
p.F357L
c.1071C>G
1 paper
NM_001080513.4
p.F357L
c.1071C>A
1 paper
NM_001080513.4
p.F333_R334del2
c.997_1001del6
1 paper
NM_001080513.4
p.R334T
c.1001G>C
1 paper
NM_001080513.4
p.F333_R334delFs
c.999_1000delTG
2 papers
NM_001080513.4
p.W397L
c.1190G>T
1 paper
NM_001080513.4
p.A305T
c.913G>A
1 paper
NM_001080513.4
p.V292F
c.874G>T
1 paper
NM_001080513.4
p.A437T
c.1309G>A
1 paper
NM_001080513.4
p.T457M
c.1370C>T
1 paper
NM_001080513.4
p.E461K
c.1381G>A
1 paper
NM_001080513.4
p.A252V
c.755C>T
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