Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1A
Variant:p.T500N

DCLRE1A

115 papers

RefSeq Summary

This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a ...

Pfam Domains

DRMBLaa 914–1020UCSCDNA repair metallo-beta-lactamase

Gene Aliases

HGNC Name

DNA cross-link repair 1A

HGNC Alias Symbols

SNM1; PSO2; KIAA0086; hSNM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014881.5
p.T500N
c.1499C>A
Surrounding Variants
1 paper
NM_014881.5
p.V515L
c.1543G>C
1 paper
NM_014881.5
p.G475E
c.1424G>A
1 paper
NM_014881.5
p.K462N
c.1386G>T
1 paper
NM_014881.5
p.K462N
c.1386G>C
1 paper
NM_014881.5
p.V461_K462delFs
c.1381_1384del4
1 paper
NM_014881.5
p.V461fs
c.1381_1382fs
1 paper
NM_014881.5
p.P459L
c.1376C>T
1 paper
NM_014881.5
p.L458F
c.1372C>T
1 paper
NM_014881.5
p.K543E
c.1627A>G
1 paper
NM_014881.5
p.N454_Q455insFs
c.1362_1363ins22
1 paper
NM_014881.5
p.V452I
c.1354G>A
1 paper
NM_014881.5
p.E449K
c.1345G>A
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