Varaico: Literature-Extracted Genetic Variants

Gene:NMRAL1

NMRAL1

22 papers

RefSeq Summary

This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a k...

Pfam Domains

NmrAaa 3–289UCSCNmrA-like family

Gene Aliases

HGNC Name

NmrA like redox sensor 1

HGNC Alias Symbols

FLJ25918; HSCARG; SDR48A1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
3 papers
NM_020677.6
p.T220M
c.659C>T
2 papers
NM_020677.6
p.P169A
c.505C>G
2 papers
NM_020677.6
p.D271E
c.813C>G
2 papers
NM_020677.6
p.D271E
c.813C>A
1 paper
NM_020677.6
p.D3Y
c.7G>T
1 paper
NM_020677.6
p.T23I
c.68C>T
1 paper
NM_020677.6
p.R37Q
c.110G>A
1 paper
NM_020677.6
p.R48R
c.144G>A
1 paper
NM_020677.6
p.A74T
c.220G>A
1 paper
NM_020677.6
p.Q93_G94Splc
c.279+3G>A
1 paper
NM_020677.6
p.Q93_G94Splc
c.279+5G>C
1 paper
NM_020677.6
p.D238N
c.712G>A
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