Varaico: Literature-Extracted Genetic Variants

Gene:LRR1

LRR1

70 papers

RefSeq Summary

The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression o...

Pfam Domains

PH_LRR1aa 1–123UCSCLRR1 pleckstrin homology domain
LRR_4aa 177–219UCSCLeucine Rich repeats (2 copies)

Gene Aliases

HGNC Name

leucine rich repeat protein 1

HGNC Previous Symbol

PPIL5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
4 papers
NM_152329.4
p.A110D
c.329C>A
2 papers
NM_152329.4
p.P309S
c.925C>T
2 papers
NM_152329.4
p.I342V
c.1024A>G
2 papers
NM_152329.4
p.S378A
c.1132T>G
1 paper
NM_152329.4
p.E8Q
c.22G>C
1 paper
NM_152329.4
p.R12W
c.34C>T
1 paper
NM_152329.4
p.R63S
c.189G>C
1 paper
NM_152329.4
p.Q68*
c.202C>T
1 paper
NM_152329.4
p.L92L
c.274C>T
1 paper
NM_152329.4
p.L104L
c.312T>A
1 paper
NM_152329.4
p.A106V
c.317C>T
1 paper
NM_152329.4
p.A110delFs
c.329delC
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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."