Varaico: Literature-Extracted Genetic Variants

Gene:LRRC40
Variant:p.H137L

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.H137L
c.410A>T
Surrounding Variants
1 paper
NM_017768.5
p.N161K
c.483T>G
1 paper
NM_017768.5
p.N161K
c.483T>A
1 paper
NM_017768.5
p.G169*
c.505G>T
1 paper
NM_017768.5
p.D178N
c.532G>A
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.P213S
c.637C>T
1 paper
NM_017768.5
p.T108I
c.323C>T
1 paper
NM_017768.5
p.I89M
c.267A>G
1 paper
NM_017768.5
p.T85I
c.254C>T
4 papers
NM_017768.5
p.E80K
c.238G>A
1 paper
NM_017768.5
p.R57fs
c.169_170fs
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