Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1A
Variant:p.P19fs

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.P19fs
c.55_56fs
Surrounding Variants
1 paper
NM_014881.5
p.D9G
c.26A>G
1 paper
NM_014881.5
p.I31N
c.92T>A
1 paper
NM_014881.5
p.S34S
c.102T>A
1 paper
NM_014881.5
p.V35V
c.105T>A
1 paper
NM_014881.5
p.G71D
c.212G>A
1 paper
NM_014881.5
p.S75Y
c.224C>A
1 paper
NM_014881.5
p.S83R
c.247A>C
1 paper
NM_014881.5
p.S83R
c.249T>G
1 paper
NM_014881.5
p.S83R
c.249T>A
1 paper
NM_014881.5
p.Q90E
c.268C>G
1 paper
NM_014881.5
p.Q92R
c.275A>G
2 papers
NM_014881.5
p.D93D
c.279C>T
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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."