Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1A
Variant:p.S249C

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.S249C
c.746C>G
Surrounding Variants
1 paper
NM_014881.5
p.Q256*
c.766C>T
1 paper
NM_014881.5
p.L241fs
c.721_722fs
1 paper
NM_014881.5
p.L241delFs
c.721_722delAG
1 paper
NM_014881.5
p.D268N
c.802G>A
1 paper
NM_014881.5
p.D268insFs
c.804dupC
1 paper
NM_014881.5
p.K269fs
c.805_806fs
1 paper
NM_014881.5
p.R276C
c.826C>T
5 papers
NM_014881.5
p.P287L
c.860C>T
2 papers
NM_014881.5
p.K202M
c.605A>T
1 paper
NM_014881.5
p.P192L
c.575C>T
1 paper
NM_014881.5
p.D311G
c.932A>G
1 paper
NM_014881.5
p.P316L
c.947C>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."