Varaico: Literature-Extracted Genetic Variants

Gene:CGNL1
Variant:p.R509W

CGNL1

94 papers

RefSeq Summary

This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activit...

Pfam Domains

Myosin_tail_1aa 586–1036UCSCMyosin tail
Myosin_tail_1aa 1014–1257UCSCMyosin tail

Gene Aliases

HGNC Name

cingulin like 1

HGNC Alias Symbols

FLJ14957; JACOP; KIAA1749; PCING

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032866.5
p.R509W
c.1525C>T
Surrounding Variants
1 paper
NM_032866.5
p.A502T
c.1504G>A
1 paper
NM_032866.5
p.E494K
c.1480G>A
1 paper
NM_032866.5
p.K492N
c.1476A>C
1 paper
NM_032866.5
p.K492N
c.1476A>T
1 paper
NM_032866.5
p.P528S
c.1582C>T
1 paper
NM_032866.5
p.A484V
c.1451C>T
1 paper
NM_032866.5
p.Q534H
c.1602G>C
1 paper
NM_032866.5
p.Q534H
c.1602G>T
1 paper
NM_032866.5
p.E478G
c.1433A>G
1 paper
NM_032866.5
p.Q463*
c.1387C>T
3 papers
NM_032866.5
p.S459F
c.1376C>T
1 paper
NM_032866.5
p.R435H
c.1304G>A
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