Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.E458Q

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
2 papers
NM_001033855.3
p.E458Q
c.1372G>C
Surrounding Variants
1 paper
NM_001033855.3
p.E460Q
c.1378G>C
1 paper
NM_001033855.3
p.E461G
c.1382A>G
1 paper
NM_001033855.3
p.E462Q
c.1384G>C
2 papers
NM_001033855.3
p.D451_E453delFs
c.1353_1359del7
1 paper
NM_001033855.3
p.V450_C452delFs
c.1350_1356del7
1 paper
NM_001033855.3
p.E462_V463del1
c.1385_1387delCTT
1 paper
NM_001033855.3
p.C452insFs
c.1354_1355ins4
1 paper
NM_001033855.3
p.C452insFs
c.1354_1355insAA
1 paper
NM_001033855.3
p.G464fs
c.1390_1391fs
2 papers
NM_001033855.3
p.D451fs
c.1351_1352fs
1 paper
NM_001033855.3
p.G464A
c.1391G>C
1 paper
NM_001033855.3
p.D451fs
c.1351_1352fs
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