Varaico: Literature-Extracted Genetic Variants

Gene:LRRC40
Variant:p.S44*

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.S44*
c.131C>A
Surrounding Variants
1 paper
NM_017768.5
p.Q40*
c.118C>T
1 paper
NM_017768.5
p.E50fs
c.148_149fs
1 paper
NM_017768.5
p.L31L
c.91C>T
1 paper
NM_017768.5
p.G30G
c.90G>A
1 paper
NM_017768.5
p.C23R
c.67T>C
1 paper
NM_017768.5
p.M1V
c.1A>G
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