Varaico: Literature-Extracted Genetic Variants

Gene:LRRC39
Variant:p.K245E

LRRC39

28 papers

Pfam Domains

LRR_1aa 107–128UCSCLeucine Rich Repeat
LRR_4aa 222–263UCSCLeucine Rich repeats (2 copies)

Gene Aliases

HGNC Name

leucine rich repeat containing 39

HGNC Alias Symbols

MGC14816; myomasp

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144620.4
p.K245E
c.733A>G
Surrounding Variants
1 paper
NM_144620.4
p.N232_I241delFs
c.694_722del29
1 paper
NM_144620.4
p.T240fs
c.718_719fs
1 paper
NM_144620.4
p.C236Y
c.707G>A
1 paper
NM_144620.4
p.N254K
c.762C>G
1 paper
NM_144620.4
p.N254K
c.762C>A
1 paper
NM_144620.4
p.T235A
c.703A>G
4 papers
NM_144620.4
p.R231*
c.691C>T
1 paper
NM_144620.4
p.P261Q
c.782C>A
2 papers
NM_144620.4
p.R220K
c.659G>A
2 papers
NM_144620.4
p.R220K
c.659G>A
1 paper
NM_144620.4
p.D216N
c.646G>A
1 paper
NM_144620.4
p.N209H
c.625A>C
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