Varaico: Literature-Extracted Genetic Variants

Gene:LRRC70
Variant:p.V550I

LRRC70

24 papers

Pfam Domains

LRR_8aa 61–118UCSCLeucine rich repeat
LRR_8aa 108–168UCSCLeucine rich repeat
LRR_8aa 157–216UCSCLeucine rich repeat
LRR_8aa 204–264UCSCLeucine rich repeat
LRR_8aa 253–312UCSCLeucine rich repeat
LRR_8aa 300–360UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 70

HGNC Alias Symbols

SLRN; LOC100130733

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181506.5
p.V550I
c.1648G>A
Surrounding Variants
1 paper
NM_181506.5
p.V549A
c.1646T>C
1 paper
NM_181506.5
p.R563S
c.1689G>C
1 paper
NM_181506.5
p.R563S
c.1689G>T
1 paper
NM_181506.5
p.I530F
c.1588A>T
1 paper
NM_181506.5
p.N579I
c.1736A>T
1 paper
NM_181506.5
p.C585Y
c.1754G>A
1 paper
NM_181506.5
p.R601G
c.1801C>G
2 papers
NM_181506.5
p.F467L
c.1401T>A
2 papers
NM_181506.5
p.F467L
c.1401T>G
2 papers
NM_181506.5
p.F467L
c.1399T>C
1 paper
NM_181506.5
p.P459S
c.1375C>T
1 paper
NM_181506.5
p.H424N
c.1270C>A
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