Varaico: Literature-Extracted Genetic Variants

Gene:LRRC2
Variant:p.G164Splc

LRRC2

29 papers

RefSeq Summary

This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to ...

Pfam Domains

FAM240aa 9–66UCSCFAM240
LRR_4aa 167–210UCSCLeucine Rich repeats (2 copies)
LRR_1aa 238–259UCSCLeucine Rich Repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 2

HGNC Previous Name

leucine-rich repeat-containing 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024512.5
p.G164Splc
c.490+30C>G
Surrounding Variants
1 paper
NM_024512.5
p.P160L
c.479C>T
4 papers
NM_024512.5
p.A145E
c.434C>A
1 paper
NM_024512.5
p.T111M
c.332C>T
1 paper
NM_024512.5
p.V102fs
c.304_305fs
1 paper
NM_024512.5
p.T85A
c.253A>G
1 paper
NM_024512.5
p.T83A
c.247A>G
1 paper
NM_024512.5
p.N173D
c.517A>G
1 paper
NM_024512.5
p.F68S
c.203T>C
1 paper
NM_024512.5
p.P183T
c.547C>A
1 paper
NM_024512.5
p.S198S
c.594T>C
1 paper
NM_024512.5
p.R235Q
c.704G>A
1 paper
NM_024512.5
p.D255Y
c.763G>T
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."