Varaico: Literature-Extracted Genetic Variants

Gene:LRRC43
Variant:p.V491A

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
Selected Variant
1 paper
NM_001098519.2
p.V491A
c.1472T>C
Surrounding Variants
1 paper
NM_001098519.2
p.E463K
c.1387G>A
1 paper
NM_001098519.2
p.V508L
c.1522G>C
1 paper
NM_001098519.2
p.K518ins7
c.1553_1554ins21
1 paper
NM_001098519.2
p.K518_G519ins7
c.1554_1555ins21
3 papers
NM_001098519.2
p.K526E
c.1576A>G
3 papers
NM_001098519.2
p.K526R
c.1577A>G
1 paper
NM_001098519.2
p.P538L
c.1613C>T
1 paper
NM_001098519.2
p.P551L
c.1652C>T
1 paper
NM_001098519.2
p.D558N
c.1672G>A
1 paper
NM_001098519.2
p.D558fs
c.1672_1673fs
2 papers
NM_001098519.2
p.D558E
c.1674C>A
2 papers
NM_001098519.2
p.D558E
c.1674C>G
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."