Varaico: Literature-Extracted Genetic Variants

Gene:LRRC47
Variant:p.V314A

LRRC47

45 papers

Pfam Domains

LRR_8aa 129–191UCSCLeucine rich repeat
LRR_1aa 203–224UCSCLeucine Rich Repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 47

HGNC Alias Symbols

KIAA1185; RP1-286D6.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020710.3
p.V314A
c.941T>C
Surrounding Variants
1 paper
NM_020710.3
p.R306W
c.916C>T
1 paper
NM_020710.3
p.S326G
c.976A>G
1 paper
NM_020710.3
p.R354C
c.1060C>T
1 paper
NM_020710.3
p.G264G
c.792T>C
1 paper
NM_020710.3
p.R263H
c.788G>A
1 paper
NM_020710.3
p.R259H
c.776G>A
1 paper
NM_020710.3
p.I230N
c.689T>A
1 paper
NM_020710.3
p.E216K
c.646G>A
1 paper
NM_020710.3
p.C367G
c.1099T>G
1 paper
NM_020710.3
p.K369T
c.1106A>C
1 paper
NM_020710.3
p.K369N
c.1107G>T
1 paper
NM_020710.3
p.K369N
c.1107G>C
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