Varaico: Literature-Extracted Genetic Variants

Gene:LRRC53
Variant:p.N547fs

LRRC53

31 papers

Pfam Domains

LRR_8aa 34–93UCSCLeucine rich repeat
LRR_8aa 95–143UCSCLeucine rich repeat
LRR_8aa 131–193UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001382280.1
p.N547fs
c.1639_1640fs
Surrounding Variants
1 paper
NM_001382280.1
p.N547delFs
c.1640delT
1 paper
NM_001382280.1
p.N547fs
c.1639_1640fs
1 paper
NM_001382280.1
p.Y551N
c.1651T>A
1 paper
NM_001382280.1
p.D584N
c.1750G>A
1 paper
NM_001382280.1
p.I509V
c.1525A>G
1 paper
NM_001382280.1
p.P507L
c.1520C>T
1 paper
NM_001382280.1
p.R499C
c.1495C>T
1 paper
NM_001382280.1
p.P487T
c.1459C>A
1 paper
NM_001382280.1
p.D478G
c.1433A>G
1 paper
NM_001382280.1
p.R637G
c.1909A>G
1 paper
NM_001382280.1
p.V697L
c.2089G>C
1 paper
NM_001382280.1
p.E732*
c.2194G>T
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