Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1A
Variant:p.C794S

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.C794S
c.2381G>C
Surrounding Variants
1 paper
NM_014881.5
p.C794S
c.2380T>A
1 paper
NM_014881.5
p.L801F
c.2401C>T
1 paper
NM_014881.5
p.V809G
c.2426T>G
1 paper
NM_014881.5
p.D819E
c.2457T>G
1 paper
NM_014881.5
p.D819E
c.2457T>A
1 paper
NM_014881.5
p.R824H
c.2471G>A
1 paper
NM_014881.5
p.D838N
c.2512G>A
1 paper
NM_014881.5
p.H764R
c.2291A>G
1 paper
NM_014881.5
p.K760N
c.2280G>T
1 paper
NM_014881.5
p.K760N
c.2280G>C
5 papers
NM_014881.5
p.I859F
c.2575A>T
1 paper
NM_014881.5
p.E884D
c.2652G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."