Varaico: Literature-Extracted Genetic Variants

Gene:LRRC47
Variant:p.E193D

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.E193D
c.579A>C
Surrounding Variants
1 paper
NM_020710.3
p.E193D
c.579A>T
1 paper
NM_020710.3
p.I198V
c.592A>G
1 paper
NM_020710.3
p.A187A
c.561T>C
1 paper
NM_020710.3
p.A185V
c.554C>T
1 paper
NM_020710.3
p.E143G
c.428A>G
1 paper
NM_020710.3
p.E124A
c.371A>C
1 paper
NM_020710.3
p.E112A
c.335A>C
1 paper
NM_020710.3
p.L98L
c.292C>T
1 paper
NM_020710.3
p.A86V
c.257C>T
1 paper
NM_020710.3
p.A65T
c.193G>A
1 paper
NM_020710.3
p.P44Q
c.131C>A
1 paper
NM_020710.3
p.R34Q
c.101G>A
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