Varaico: Literature-Extracted Genetic Variants

Gene:LRRC53
Variant:p.K997fs

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.K997fs
c.2989_2990fs
Surrounding Variants
1 paper
NM_001382280.1
p.S1019L
c.3056C>T
1 paper
NM_001382280.1
p.E968D
c.2904A>T
1 paper
NM_001382280.1
p.E968D
c.2904A>C
1 paper
NM_001382280.1
p.I1032K
c.3095T>A
1 paper
NM_001382280.1
p.A951G
c.2852C>G
1 paper
NM_001382280.1
p.N941S
c.2822A>G
1 paper
NM_001382280.1
p.D938N
c.2812G>A
1 paper
NM_001382280.1
p.D1060V
c.3179A>T
1 paper
NM_001382280.1
p.T1062A
c.3184A>G
1 paper
NM_001382280.1
p.E1075Q
c.3223G>C
1 paper
NM_001382280.1
p.S1101P
c.3301T>C
1 paper
NM_001382280.1
p.A877V
c.2630C>T
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