Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.R81*

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
9 papers
NM_001033855.3
p.R81*
c.241C>T
Surrounding Variants
2 papers
NM_001033855.3
p.R81Q
c.242G>A
1 paper
NM_001033855.3
p.I82M
c.246T>G
1 paper
NM_001033855.3
p.R76K
c.227G>A
1 paper
NM_001033855.3
p.T71M
c.212C>T
3 papers
NM_001033855.3
p.T71P
c.211A>C
9 papers
NM_001033855.3
p.L70del1
c.208_209delTAA
3 papers
NM_001033855.3
p.L69_L70del1
c.207_209delAAC
1 paper
NM_001033855.3
p.L70L
c.208T>C
1 paper
NM_001033855.3
p.L69*
c.206T>A
1 paper
NM_001033855.3
p.E67K
c.199G>A
1 paper
NM_001033855.3
p.K66K
c.198G>A
15 papers
NM_001033855.3
p.T65I
c.194C>T
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