Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.C436*

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
5 papers
NM_001033855.3
p.C436*
c.1308C>A
Surrounding Variants
8 papers
NM_001033855.3
p.P433_C436insFs
c.1299_1306dup8
2 papers
NM_001033855.3
p.R430_C436delFs
c.1290_1306del17
1 paper
NM_001033855.3
p.T432fs
c.1294_1295fs
1 paper
NM_001033855.3
p.Q431E
c.1291C>G
1 paper
NM_001033855.3
p.K428fs
c.1282_1283fs
1 paper
NM_001033855.3
p.S444_R445delFs
c.1330_1334del5
1 paper
NM_001033855.3
p.E427K
c.1279G>A
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.N448D
c.1342A>G
2 papers
NM_001033855.3
p.K424fs
c.1270_1271fs
1 paper
NM_001033855.3
p.F449_V450insT
c.1345_1349ins3
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."