Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1A

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
1–12 of 107 variants
12 papers
NM_014881.5
p.R138*
c.412C>T
7 papers
NM_014881.5
p.D317H
c.949G>C
7 papers
NM_014881.5
p.R368Q
c.1103G>A
5 papers
NM_014881.5
p.P287L
c.860C>T
5 papers
NM_014881.5
p.I859F
c.2575A>T
2 papers
NM_014881.5
p.D93D
c.279C>T
2 papers
NM_014881.5
p.K202M
c.605A>T
2 papers
NM_014881.5
p.S623P
c.1867T>C
2 papers
NM_014881.5
p.D736A
c.2207A>C
2 papers
NM_014881.5
p.P1009H
c.3026C>A
1 paper
NM_014881.5
p.D9G
c.26A>G
1 paper
NM_014881.5
p.P19fs
c.55_56fs
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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."