Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1A
Variant:p.H109H

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.H109H
c.327C>T
Surrounding Variants
1 paper
NM_014881.5
p.S107fs
c.319_320fs
1 paper
NM_014881.5
p.Q105*
c.313C>T
1 paper
NM_014881.5
p.P116L
c.347C>T
1 paper
NM_014881.5
p.K100insFs
c.300dupA
1 paper
NM_014881.5
p.C122G
c.364T>G
1 paper
NM_014881.5
p.C125F
c.374G>T
2 papers
NM_014881.5
p.D93D
c.279C>T
1 paper
NM_014881.5
p.Q92R
c.275A>G
1 paper
NM_014881.5
p.M127K
c.380T>A
1 paper
NM_014881.5
p.Q90E
c.268C>G
1 paper
NM_014881.5
p.S83R
c.249T>G
1 paper
NM_014881.5
p.S83R
c.249T>A
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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."