Varaico: Literature-Extracted Genetic Variants

Gene:LRRC40

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
1–12 of 52 variants
4 papers
NM_017768.5
p.E80K
c.238G>A
3 papers
NM_017768.5
p.P388S
c.1162C>T
2 papers
NM_017768.5
p.L248F
c.742C>T
2 papers
NM_017768.5
p.R251W
c.751C>T
2 papers
NM_017768.5
p.P328L
c.983C>T
2 papers
NM_017768.5
p.R350*
c.1048C>T
2 papers
NM_017768.5
p.L487F
c.1461G>T
2 papers
NM_017768.5
p.L487F
c.1461G>C
2 papers
NM_017768.5
p.I500V
c.1498A>G
2 papers
NM_017768.5
p.N543Y
c.1627A>T
1 paper
NM_017768.5
p.M1V
c.1A>G
1 paper
NM_017768.5
p.C23R
c.67T>C
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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."