Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.C452insFs

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.C452insFs
c.1354_1355ins4
Surrounding Variants
1 paper
NM_001033855.3
p.C452insFs
c.1354_1355insAA
2 papers
NM_001033855.3
p.D451fs
c.1351_1352fs
1 paper
NM_001033855.3
p.D451fs
c.1351_1352fs
1 paper
NM_001033855.3
p.V450_C452delFs
c.1350_1356del7
1 paper
NM_001033855.3
p.V450A
c.1349T>C
1 paper
NM_001033855.3
p.V450I
c.1348G>A
2 papers
NM_001033855.3
p.D451_E453delFs
c.1353_1359del7
1 paper
NM_001033855.3
p.F449_V450insT
c.1345_1349ins3
1 paper
NM_001033855.3
p.N448D
c.1342A>G
1 paper
NM_001033855.3
p.T447I
c.1340C>T
1 paper
NM_001289076.2
p.T332K
c.995C>A
1 paper
NM_001033855.3
p.S444_R445delFs
c.1330_1334del5
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