Varaico: Literature-Extracted Genetic Variants

Gene:LRRC47
Variant:p.N513insFs

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.N513insFs
c.1539dupT
Surrounding Variants
1 paper
NM_020710.3
p.K514fs
c.1540_1541fs
1 paper
NM_020710.3
p.E515K
c.1543G>A
1 paper
NM_020710.3
p.V555L
c.1663G>T
1 paper
NM_020710.3
p.V555L
c.1663G>C
2 papers
NM_020710.3
p.P567R
c.1700C>G
1 paper
NM_020710.3
p.V581I
c.1741G>A
1 paper
NM_020710.3
p.S485T
c.1454G>C
1 paper
NM_020710.3
p.V483L
c.1447G>T
1 paper
NM_020710.3
p.V483L
c.1447G>C
1 paper
NM_020710.3
p.I464fs
c.1390_1391fs
1 paper
NM_020710.3
p.I464delFs
c.1390delT
1 paper
NM_020710.3
p.I459T
c.1376T>C
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