Varaico: Literature-Extracted Genetic Variants

Gene:CPXM2
Variant:p.H546L

CPXM2

101 papers

Pfam Domains

F5_F8_type_Caa 150–290UCSCF5/8 type C domain
Peptidase_M14aa 324–632UCSCZinc carboxypeptidase
CarboxypepD_regaa 643–719UCSCCarboxypeptidase regulatory-like domain

Gene Aliases

HGNC Name

carboxypeptidase X, M14 family member 2

HGNC Alias Symbols

UNQ676; CPX2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198148.3
p.H546L
c.1637A>T
Surrounding Variants
1 paper
NM_198148.3
p.V547M
c.1639G>A
1 paper
NM_198148.3
p.D544D
c.1632C>T
2 papers
NM_198148.3
p.R549C
c.1645C>T
1 paper
NM_198148.3
p.Q537R
c.1610A>G
3 papers
NM_198148.3
p.T536M
c.1607C>T
1 paper
NM_198148.3
p.K535_T536delFs
c.1605_1606delTC
1 paper
NM_198148.3
p.K535fs
c.1603_1604fs
1 paper
NM_198148.3
p.D528N
c.1582G>A
1 paper
NM_198148.3
p.R566Q
c.1697G>A
1 paper
NM_198148.3
p.G514D
c.1541G>A
1 paper
NM_198148.3
p.I508fs
c.1522_1523fs
1 paper
NM_198148.3
p.V590I
c.1768G>A
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