Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.E188*

DCLRE1C

272 papers

RefSeq Summary

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease act...

Pfam Domains

DRMBLaa 239–345UCSCDNA repair metallo-beta-lactamase

Gene Aliases

HGNC Name

DNA cross-link repair 1C

HGNC Previous Symbol

SCIDA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001033855.3
p.E188*
c.562G>T
Surrounding Variants
3 papers
NM_001033855.3
p.L187*
c.560T>G
2 papers
NM_001033855.3
p.L187*
c.560T>A
1 paper
NM_001033855.3
p.G185G
c.555A>G
6 papers
NM_001033855.3
p.R191*
c.571C>T
3 papers
NM_001033855.3
p.S192R
c.576C>A
1 paper
NM_001033855.3
p.W193*
c.578G>A
2 papers
NM_001033855.3
p.C182Y
c.545G>A
1 paper
NM_001033855.3
p.W193*
c.579G>A
1 paper
NM_022487.4
p.R81W
c.241C>T
1 paper
NM_001033855.3
p.R179_E180Splc
c.538-3T>G
8 papers
NM_001033855.3
p.Y199*
c.597C>G
8 papers
NM_001033855.3
p.Y199*
c.597C>A
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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."