Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.F416L

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.F416L
c.1246T>C
Surrounding Variants
1 paper
NM_001033855.3
p.F416L
c.1248T>G
1 paper
NM_001033855.3
p.F416L
c.1248T>A
1 paper
NM_001033855.3
p.H412Y
c.1234C>T
2 papers
NM_001033855.3
p.K424fs
c.1270_1271fs
1 paper
NM_001033855.3
p.E427K
c.1279G>A
1 paper
NM_001033855.3
p.H403delFs
c.1209delG
1 paper
NM_001033855.3
p.K428fs
c.1282_1283fs
1 paper
NM_001033855.3
p.Q431E
c.1291C>G
1 paper
NM_001033855.3
p.P400R
c.1199C>G
1 paper
NM_001033855.3
p.P400A
c.1198C>G
1 paper
NM_001033855.3
p.T432fs
c.1294_1295fs
1 paper
NM_001033855.3
p.P398S
c.1192C>T
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