Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1A
Variant:p.C949G

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.C949G
c.2845T>G
Surrounding Variants
1 paper
NM_014881.5
p.K940_G941Splc
c.2821-2A>C
1 paper
NM_014881.5
p.G963A
c.2888G>C
1 paper
NM_014881.5
p.N968D
c.2902A>G
1 paper
NM_014881.5
p.I973I
c.2919A>C
1 paper
NM_014881.5
p.E993E
c.2979A>G
2 papers
NM_014881.5
p.P1009H
c.3026C>A
1 paper
NM_014881.5
p.K940R
c.2819A>G
1 paper
NM_014881.5
p.D923N
c.2767G>A
1 paper
NM_014881.5
p.K906T
c.2717A>C
1 paper
NM_014881.5
p.E884D
c.2652G>T
1 paper
NM_014881.5
p.E884D
c.2652G>C
5 papers
NM_014881.5
p.I859F
c.2575A>T
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