Varaico: Literature-Extracted Genetic Variants

Gene:LRGUK
Variant:p.S288Y

LRGUK

55 papers

Pfam Domains

LRR_4aa 215–257UCSCLeucine Rich repeats (2 copies)
LRR_9aa 259–380UCSCLeucine-rich repeat
LRR_4aa 260–300UCSCLeucine Rich repeats (2 copies)
Guanylate_kinaa 414–599UCSCGuanylate kinase

Gene Aliases

HGNC Name

leucine rich repeats and guanylate kinase domain containing

HGNC Alias Symbols

FLJ32786; CFAP246

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144648.3
p.S288Y
c.863C>A
Surrounding Variants
1 paper
NM_144648.3
p.G297V
c.890G>T
1 paper
NM_144648.3
p.L276S
c.827T>C
1 paper
NM_144648.3
p.D302Y
c.904G>T
1 paper
NM_144648.3
p.Q269H
c.807G>C
1 paper
NM_144648.3
p.Q269H
c.807G>T
1 paper
NM_144648.3
p.S231_G232del2
c.691_695del6
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