Varaico: Literature-Extracted Genetic Variants

Gene:LRRC30
Variant:p.R17K

LRRC30

26 papers

Pfam Domains

LRR_1aa 72–93UCSCLeucine Rich Repeat
LRR_8aa 119–175UCSCLeucine rich repeat
LRR_8aa 163–221UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001105581.3
p.R17K
c.50G>A
Surrounding Variants
1 paper
NM_001105581.3
p.T21M
c.62C>T
1 paper
NM_001105581.3
p.G22R
c.64G>A
1 paper
NM_001105581.3
p.A3delFs
c.7delG
1 paper
NM_001105581.3
p.L34P
c.101T>C
1 paper
NM_001105581.3
p.D39N
c.115G>A
2 papers
NM_001105581.3
p.R46W
c.136C>T
1 paper
NM_001105581.3
p.N81S
c.242A>G
1 paper
NM_001105581.3
p.G103W
c.307G>T
1 paper
NM_001105581.3
p.P110T
c.328C>A
1 paper
NM_001105581.3
p.E112D
c.336A>C
1 paper
NM_001105581.3
p.E112D
c.336A>T
1 paper
NM_001105581.3
p.L115F
c.343C>T
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