Varaico: Literature-Extracted Genetic Variants

Gene:NWD1
Variant:p.R248H

NWD1

102 papers

RefSeq Summary

The protein encoded by this gene is thought to be a cytosolic protein and predicted to contain a NACHT domain and multiple WD40 repeats. Increased expression of this gene was observed in some prostate...

Gene Aliases

HGNC Name

NACHT and WD repeat domain containing 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001007525.5
p.R248H
c.743G>A
Surrounding Variants
1 paper
NM_001007525.5
p.R248C
c.742C>T
1 paper
NM_001007525.5
p.R243H
c.728G>A
2 papers
NM_001007525.5
p.R243C
c.727C>T
1 paper
NM_001007525.5
p.H242delFs
c.726delC
1 paper
NM_001007525.5
p.H242fs
c.724_725fs
1 paper
NM_001007525.5
p.E264K
c.790G>A
1 paper
NM_001007525.5
p.I231T
c.692T>C
1 paper
NM_001007525.5
p.F269L
c.805T>C
1 paper
NM_001007525.5
p.F269L
c.807T>A
1 paper
NM_001007525.5
p.F269L
c.807T>G
1 paper
NM_001007525.5
p.A273T
c.817G>A
1 paper
NM_001007525.5
p.N274ins2
c.820_821ins6
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."