Varaico: Literature-Extracted Genetic Variants

Gene:LRRC40
Variant:p.L231F

LRRC40

57 papers

Pfam Domains

LRR_8aa 82–140UCSCLeucine rich repeat
LRR_8aa 151–209UCSCLeucine rich repeat
LRR_8aa 201–255UCSCLeucine rich repeat
LRR_8aa 265–324UCSCLeucine rich repeat
LRR_1aa 543–564UCSCLeucine Rich Repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 40

HGNC Alias Symbol

FLJ20331

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017768.5
p.L231F
c.691C>T
Surrounding Variants
1 paper
NM_017768.5
p.S229_L231delFs
c.687_691del5
1 paper
NM_017768.5
p.N230S
c.689A>G
2 papers
NM_017768.5
p.L248F
c.742C>T
2 papers
NM_017768.5
p.R251W
c.751C>T
1 paper
NM_017768.5
p.P259Q
c.776C>A
1 paper
NM_017768.5
p.P213S
c.637C>T
1 paper
NM_017768.5
p.L212F
c.636G>T
1 paper
NM_017768.5
p.L212F
c.636G>C
1 paper
NM_017768.5
p.V272I
c.814G>A
1 paper
NM_017768.5
p.R312L
c.935G>T
1 paper
NM_017768.5
p.R316K
c.947G>A
1 paper
NM_017768.5
p.L327V
c.979C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."