Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1A
Variant:p.Y750F

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.Y750F
c.2249A>T
Surrounding Variants
2 papers
NM_014881.5
p.D736A
c.2207A>C
1 paper
NM_014881.5
p.V721M
c.2161G>A
1 paper
NM_014881.5
p.G711S
c.2131G>A
1 paper
NM_014881.5
p.K760N
c.2280G>T
1 paper
NM_014881.5
p.K760N
c.2280G>C
1 paper
NM_014881.5
p.H764R
c.2291A>G
1 paper
NM_014881.5
p.K668R
c.2003A>G
1 paper
NM_014881.5
p.E662fs
c.1984_1985fs
1 paper
NM_014881.5
p.E662delFs
c.1984delC
1 paper
NM_014881.5
p.R652S
c.1956A>T
1 paper
NM_014881.5
p.R652S
c.1956A>C
1 paper
NM_014881.5
p.E646K
c.1936G>A
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