Varaico: Literature-Extracted Genetic Variants

Gene:LRIT2
Variant:p.C206S

LRIT2

46 papers

Pfam Domains

LRR_8aa 56–115UCSCLeucine rich repeat
LRR_8aa 113–163UCSCLeucine rich repeat
Ig_3aa 252–331UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

leucine rich repeat, Ig-like and transmembrane domains 2

HGNC Previous Symbol

LRRC22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001017924.5
p.C206S
c.616T>A
Surrounding Variants
1 paper
NM_001017924.5
p.C206G
c.616T>G
1 paper
NM_001017924.5
p.C206S
c.617G>C
1 paper
NM_001017924.5
p.L220F
c.658C>T
2 papers
NM_001017924.5
p.L220L
c.660C>T
2 papers
NM_001017924.5
p.G186R
c.556G>C
2 papers
NM_001017924.5
p.G186R
c.556G>A
1 paper
NM_001017924.5
p.D184H
c.550G>C
1 paper
NM_001017924.5
p.K179N
c.537A>T
1 paper
NM_001017924.5
p.K179N
c.537A>C
1 paper
NM_001017924.5
p.Q240fs
c.718_719fs
1 paper
NM_001017924.5
p.E144*
c.430G>T
1 paper
NM_001017924.5
p.E144K
c.430G>A
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."