Varaico: Literature-Extracted Genetic Variants

Gene:LRR1
Variant:p.S278L

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
Selected Variant
1 paper
NM_152329.4
p.S278L
c.833C>T
Surrounding Variants
1 paper
NM_152329.4
p.R275C
c.823C>T
2 papers
NM_152329.4
p.P309S
c.925C>T
1 paper
NM_152329.4
p.P309L
c.926C>T
1 paper
NM_152329.4
p.L241P
c.722T>C
1 paper
NM_152329.4
p.R229Q
c.686G>A
1 paper
NM_152329.4
p.R329*
c.985C>T
1 paper
NM_152329.4
p.R329Q
c.986G>A
1 paper
NM_152329.4
p.T223A
c.667A>G
1 paper
NM_152329.4
p.E213Q
c.637G>C
1 paper
NM_152329.4
p.L212V
c.634T>G
1 paper
NM_152329.4
p.H201Y
c.601C>T
1 paper
NM_152329.4
p.L199P
c.596T>C
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