Varaico: Literature-Extracted Genetic Variants

Gene:LRRC43
Variant:p.D558N

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.D558N
c.1672G>A
Surrounding Variants
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
1 paper
NM_001098519.2
p.I561fs
c.1681_1682fs
1 paper
NM_001098519.2
p.P551L
c.1652C>T
1 paper
NM_001098519.2
p.R567Q
c.1700G>A
1 paper
NM_001098519.2
p.V570L
c.1708G>C
1 paper
NM_001098519.2
p.V570L
c.1708G>T
1 paper
NM_001098519.2
p.L572P
c.1715T>C
1 paper
NM_001098519.2
p.L576V
c.1726C>G
1 paper
NM_001098519.2
p.P538L
c.1613C>T
1 paper
NM_001098519.2
p.R603_D604Splc
c.1809+8C>T
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