Varaico: Literature-Extracted Genetic Variants

Gene:CPVL
Variant:p.K368delFs

CPVL

59 papers

RefSeq Summary

The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single am...

Pfam Domains

Peptidase_S10aa 64–468UCSCSerine carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase vitellogenic like

HGNC Previous Name

carboxypeptidase, vitellogenic-like

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031311.5
p.K368delFs
c.1104delC
Surrounding Variants
1 paper
NM_031311.5
p.K368fs
c.1102_1103fs
1 paper
NM_031311.5
p.W370_L371insFs
c.1110_1111insC
1 paper
NM_031311.5
p.L371fs
c.1111_1112fs
1 paper
NM_031311.5
p.D362_T363del2
c.1084_1088del6
1 paper
NM_031311.5
p.M375I
c.1125G>T
1 paper
NM_031311.5
p.M375I
c.1125G>C
1 paper
NM_031311.5
p.M375I
c.1125G>A
5 papers
NM_031311.5
p.T348S
c.1043C>G
5 papers
NM_031311.5
p.T348S
c.1042A>T
1 paper
NM_031311.5
p.V344A
c.1031T>C
1 paper
NM_031311.5
p.P336L
c.1007C>T
1 paper
NM_031311.5
p.R319Q
c.956G>A
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