Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1B
Variant:p.S486I

DCLRE1B

119 papers

RefSeq Summary

DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved...

Pfam Domains

DRMBLaa 215–301UCSCDNA repair metallo-beta-lactamase
DRMBLaa 215–301UCSCDNA repair metallo-beta-lactamase

Gene Aliases

HGNC Name

DNA cross-link repair 1B

HGNC Alias Symbols

SNM1B; FLJ12810; FLJ13998; APOLLO

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022836.4
p.S486I
c.1457G>T
Surrounding Variants
1 paper
NM_022836.4
p.S486delFs
c.1458delC
1 paper
NM_022836.4
p.S487S
c.1461C>T
1 paper
NM_022836.4
p.S484fs
c.1450_1451fs
1 paper
NM_022836.4
p.L483_S484delFs
c.1449_1450delGT
1 paper
NM_022836.4
p.P482S
c.1444C>T
4 papers
NM_001319947.2
p.N384Y
c.1150A>T
NM_022836.4
p.N510Y
c.1528A>T
1 paper
NM_022836.4
p.D462N
c.1384G>A
1 paper
NM_022836.4
p.F512S
c.1535T>C
2 papers
NM_022836.4
p.P459A
c.1375C>G
1 paper
NM_022836.4
p.S455F
c.1364C>T
1 paper
NM_022836.4
p.E526G
c.1577A>G
1 paper
NM_022836.4
p.E526E
c.1578A>G
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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."