Varaico: Literature-Extracted Genetic Variants

Gene:NLRX1
Variant:p.V494M

NLRX1

99 papers

RefSeq Summary

The protein encoded by this gene is a member of the NLR family and localizes to the outer mitochondrial membrane. The encoded protein is a regulator of mitochondrial antivirus responses. Three transcr...

Pfam Domains

NACHTaa 160–325UCSCNACHT domain
LRR_6aa 805–828UCSCLeucine Rich repeat
NLRX1_Caa 906–967UCSCNLR family member X1, C-terminal domain

Gene Aliases

HGNC Name

NLR family member X1

HGNC Alias Symbols

NOD9; CLR11.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001282144.2
p.V494M
c.1480G>A
Surrounding Variants
1 paper
NM_001282144.2
p.M497T
c.1490T>C
1 paper
NM_001282144.2
p.L508M
c.1522C>A
1 paper
NM_001282144.2
p.R511C
c.1531C>T
2 papers
NM_001282144.2
p.R471W
c.1411C>T
1 paper
NM_001282144.2
p.R470H
c.1409G>A
2 papers
NM_001282144.2
p.R528H
c.1583G>A
1 paper
NM_001282144.2
p.E531E
c.1593G>A
1 paper
NM_001282144.2
p.V533A
c.1598T>C
2 papers
NM_001282144.2
p.R547W
c.1639C>T
2 papers
NM_001282144.2
p.R440C
c.1318C>T
1 paper
NM_001282144.2
p.V437M
c.1309G>A
1 paper
NM_001282144.2
p.K557_V558Splc
c.1671+5C>T
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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."