Varaico: Literature-Extracted Genetic Variants

Gene:LRRIQ1
Variant:p.D577D

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.D577D
c.1731T>C
Surrounding Variants
1 paper
NM_001079910.2
p.E571Q
c.1711G>C
1 paper
NM_001079910.2
p.I563_S564del2
c.1687_1691del6
2 papers
NM_001079910.2
p.G558R
c.1672G>A
2 papers
NM_001079910.2
p.G558R
c.1672G>C
1 paper
NM_001079910.2
p.V606F
c.1816G>T
1 paper
NM_001079910.2
p.H543H
c.1629T>C
1 paper
NM_001079910.2
p.Q535fs
c.1603_1604fs
1 paper
NM_001079910.2
p.Q535delFs
c.1604delA
1 paper
NM_001079910.2
p.Q524fs
c.1570_1571fs
1 paper
NM_001079910.2
p.K518T
c.1553A>C
1 paper
NM_001079910.2
p.G513*
c.1537G>T
1 paper
NM_001079910.2
p.W651_I657delFs
c.1952_1970del19
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