Varaico: Literature-Extracted Genetic Variants

Gene:LRGUK
Variant:p.K608N

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.K608N
c.1824G>T
Surrounding Variants
1 paper
NM_144648.3
p.K608N
c.1824G>C
1 paper
NM_144648.3
p.E604K
c.1810G>A
1 paper
NM_144648.3
p.T603S
c.1808C>G
1 paper
NM_144648.3
p.T603S
c.1807A>T
1 paper
NM_144648.3
p.L602F
c.1806G>C
1 paper
NM_144648.3
p.L602F
c.1806G>T
2 papers
NM_144648.3
p.R552H
c.1655G>A
1 paper
NM_144648.3
p.R552C
c.1654C>T
3 papers
NM_144648.3
p.R528H
c.1583G>A
1 paper
NM_144648.3
p.Y522N
c.1564T>A
1 paper
NM_144648.3
p.R518K
c.1553G>A
1 paper
NM_144648.3
p.H511R
c.1532A>G
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