Varaico: Literature-Extracted Genetic Variants

Gene:LRRIQ1
Variant:p.K448R

LRRIQ1

127 papers

Pfam Domains

IQaa 1336–1356UCSCIQ calmodulin-binding motif
IQaa 1396–1416UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

leucine rich repeats and IQ motif containing 1

HGNC Alias Symbols

FLJ12303; KIAA1801

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079910.2
p.K448R
c.1343A>G
Surrounding Variants
1 paper
NM_001079910.2
p.E449V
c.1346A>T
1 paper
NM_001079910.2
p.E435K
c.1303G>A
1 paper
NM_001079910.2
p.E429K
c.1285G>A
1 paper
NM_001079910.2
p.L426Q
c.1277T>A
1 paper
NM_001079910.2
p.D389G
c.1166A>G
1 paper
NM_001079910.2
p.G513*
c.1537G>T
1 paper
NM_001079910.2
p.K518T
c.1553A>C
2 papers
NM_001079910.2
p.Q373P
c.1118A>C
1 paper
NM_001079910.2
p.Q524fs
c.1570_1571fs
1 paper
NM_001079910.2
p.E365K
c.1093G>A
1 paper
NM_001079910.2
p.Q535fs
c.1603_1604fs
1 paper
NM_001079910.2
p.Q535delFs
c.1604delA
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