Varaico: Literature-Extracted Genetic Variants

Gene:LRRC43

LRRC43

55 papers

Pfam Domains

LRRC43_Naa 34–120UCSCLeucine-rich repeat-containing protein 43 N-terminal domain
LRRC43_Naa 34–120UCSCLeucine-rich repeat-containing protein 43 N-terminal domain
LRR_8aa 150–207UCSCLeucine rich repeat
LRR_8aa 150–207UCSCLeucine rich repeat
LRRC43_Caa 307–656UCSCLeucine-rich repeat-containing protein 43 C-terminal domain

Gene Aliases

HGNC Name

leucine rich repeat containing 43

HGNC Alias Symbol

MGC35140

Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
3 papers
NM_001098519.2
p.K526E
c.1576A>G
3 papers
NM_001098519.2
p.K526R
c.1577A>G
2 papers
NM_001098519.2
p.A15S
c.43G>T
2 papers
NM_001098519.2
p.P210L
c.629C>T
2 papers
NM_001098519.2
p.I271V
c.811A>G
2 papers
NM_001098519.2
p.Y341C
c.1022A>G
2 papers
NM_001098519.2
p.D558E
c.1674C>A
2 papers
NM_001098519.2
p.D558E
c.1674C>G
1 paper
NM_001098519.2
p.E14Q
c.40G>C
1 paper
NM_001098519.2
p.A30G
c.89C>G
1 paper
NM_001098519.2
p.R54R
c.162C>T
1 paper
NM_001098519.2
p.P57L
c.170C>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."