Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.L219P

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.L219P
c.656T>C
Surrounding Variants
1 paper
NM_001033855.3
p.E221G
c.662A>G
1 paper
NM_001033855.3
p.L219_E221delFs
c.657_661del5
1 paper
NM_001033855.3
p.L215L
c.643C>T
2 papers
NM_001033855.3
p.Y214N
c.640T>A
1 paper
NM_001033855.3
p.Q226_V227Splc
c.678+1G>A
9 papers
NM_001033855.3
p.G211V
c.632G>T
2 papers
NM_001033855.3
p.K207_A209del3
c.619_626del9
1 paper
NM_022487.4
p.A94delFs
c.281delG
1 paper
NM_001033855.3
p.K207delFs
c.620delT
1 paper
NM_001033855.3
p.H200N
c.598C>A
8 papers
NM_001033855.3
p.Y199*
c.597C>G
8 papers
NM_001033855.3
p.Y199*
c.597C>A
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