Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1A
Variant:p.R368Q

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
7 papers
NM_014881.5
p.R368Q
c.1103G>A
Surrounding Variants
1 paper
NM_014881.5
p.T367delFs
c.1100delG
1 paper
NM_014881.5
p.T367fs
c.1099_1100fs
1 paper
NM_014881.5
p.E357G
c.1070A>G
1 paper
NM_014881.5
p.D383N
c.1147G>A
1 paper
NM_014881.5
p.I388V
c.1162A>G
1 paper
NM_014881.5
p.S394delFs
c.1180_1181delCT
1 paper
NM_014881.5
p.L409_F410insFs
c.1227_1228dupGT
1 paper
NM_014881.5
p.F325delFs
c.975delA
1 paper
NM_014881.5
p.F325fs
c.973_974fs
1 paper
NM_014881.5
p.P412P
c.1236T>C
1 paper
NM_014881.5
p.E321E
c.963A>G
7 papers
NM_014881.5
p.D317H
c.949G>C
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