Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.Y578C

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.Y578C
c.1733A>G
Surrounding Variants
1 paper
NM_001033855.3
p.I570insFs
c.1708dupA
1 paper
NM_001033855.3
p.D569_I570delFs
c.1705_1708del4
1 paper
NM_001033855.3
p.N566_S567insFs
c.1696_1699dup4
1 paper
NM_001033855.3
p.V595insFs
c.1784dupT
2 papers
NM_001033855.3
p.I596fs
c.1786_1787fs
2 papers
NM_001033855.3
p.T557insFs
c.1669_1670insA
1 paper
NM_001033855.3
p.T557fs
c.1669_1670fs
1 paper
NM_001033858.3
p.G430_D436delFs
c.1290_1306del17
1 paper
NM_022487.4
p.E430_W436delFs
c.1290_1306del17
1 paper
NM_001033855.3
p.Q549*
c.1645C>T
1 paper
NM_001033855.3
p.E545delFs
c.1633delC
1 paper
NM_001033855.3
p.E545K
c.1633G>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."