Varaico: Literature-Extracted Genetic Variants

Gene:LRGUK
Variant:p.K153delFs

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.K153delFs
c.457_458delAA
Surrounding Variants
1 paper
NM_144648.3
p.Q152P
c.455A>C
1 paper
NM_144648.3
p.D163Splc
c.487+1237C>A
1 paper
NM_144648.3
p.F102fs
c.304_305fs
1 paper
NM_144648.3
p.V167G
c.500T>G
1 paper
NM_144648.3
p.N203D
c.607A>G
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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."