Varaico: Literature-Extracted Genetic Variants

Gene:LRGUK
Variant:p.R674Q

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.R674Q
c.2021G>A
Surrounding Variants
2 papers
NM_144648.3
p.R682C
c.2044C>T
1 paper
NM_144648.3
p.L688R
c.2063T>G
1 paper
NM_144648.3
p.F689_Q690del2
c.2065_2069del6
1 paper
NM_144648.3
p.W712R
c.2134T>C
1 paper
NM_144648.3
p.G727E
c.2180G>A
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