Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.S516P

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.S516P
c.1546T>C
Surrounding Variants
1 paper
NM_001033855.3
p.V512M
c.1534G>A
1 paper
NM_001033855.3
p.K520E
c.1558A>G
3 papers
NM_001033855.3
p.K520insFs
c.1558dupA
1 paper
NM_001033855.3
p.F522S
c.1565T>C
1 paper
NM_001033858.3
p.S389_S390insFs
c.1167_1168insAG
1 paper
NM_022487.4
p.P393delFs
c.1179delA
1 paper
NM_022487.4
p.L389_E390insFs
c.1167_1168insAG
1 paper
NM_001033855.3
p.E528K
c.1582G>A
1 paper
NM_001033855.3
p.T530I
c.1589C>T
1 paper
NM_001033855.3
p.F492fs
c.1474_1475fs
1 paper
NM_001033855.3
p.G484_V491insFs
c.1450_1472dup23
1 paper
NM_001033855.3
p.Q488_W489delFs
c.1464_1465delAC
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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."