Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.D488delFs

AGBL5

124 papers

RefSeq Summary

This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a 'dual-functional' degl...

Pfam Domains

Pepdidase_M14_Naa 10–155UCSCCytosolic carboxypeptidase N-terminal domain
Peptidase_M14aa 191–521UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

AGBL carboxypeptidase 5

HGNC Alias Symbols

FLJ21839; CCP5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021831.6
p.D488delFs
c.1464delC
Surrounding Variants
1 paper
NM_021831.6
p.R489fs
c.1465_1466fs
5 papers
NM_021831.6
p.R487*
c.1459C>T
2 papers
NM_021831.6
p.R500C
c.1498C>T
3 papers
NM_021831.6
p.A502insFs
c.1504dupG
1 paper
NM_021831.6
p.A502fs
c.1504_1505fs
1 paper
NM_021831.6
p.A502fs
c.1504_1505fs
1 paper
NM_021831.6
p.S507A
c.1519T>G
2 papers
NM_021831.6
p.S469*
c.1406C>A
2 papers
NM_021831.6
p.S469*
c.1406C>G
1 paper
NM_021831.6
p.L467_N468ins15
c.1399_1403ins45
1 paper
NM_021831.6
p.K463*
c.1387A>T
1 paper
NM_021831.6
p.Q455_V456Splc
c.1365+1G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."