Varaico: Literature-Extracted Genetic Variants

Gene:LRRC53
Variant:p.L122Q

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
1 paper
NM_001382280.1
p.L122Q
c.365T>A
Surrounding Variants
1 paper
NM_001382280.1
p.R128Q
c.383G>A
1 paper
NM_001382280.1
p.L133Q
c.398T>A
1 paper
NM_001382280.1
p.R135Q
c.404G>A
1 paper
NM_001382280.1
p.S150Y
c.449C>A
1 paper
NM_001382280.1
p.G152R
c.454G>C
1 paper
NM_001382280.1
p.G152R
c.454G>A
1 paper
NM_001382280.1
p.T154M
c.461C>T
1 paper
NM_001382280.1
p.L162M
c.484C>A
1 paper
NM_001382280.1
p.T81M
c.242C>T
2 papers
NM_001382280.1
p.R178W
c.532C>T
1 paper
NM_001382280.1
p.N191T
c.572A>C
1 paper
NM_001382280.1
p.R241delFs
c.723delC
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