Varaico: Literature-Extracted Genetic Variants

Gene:CGNL1
Variant:p.R409K

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.R409K
c.1226G>A
Surrounding Variants
1 paper
NM_032866.5
p.I405T
c.1214T>C
1 paper
NM_032866.5
p.S401L
c.1202C>T
1 paper
NM_032866.5
p.R420Q
c.1259G>A
1 paper
NM_032866.5
p.S422T
c.1264T>A
2 papers
NM_032866.5
p.G396V
c.1187G>T
1 paper
NM_032866.5
p.R434R
c.1302C>T
1 paper
NM_032866.5
p.R435H
c.1304G>A
1 paper
NM_032866.5
p.T380P
c.1138A>C
2 papers
NM_032866.5
p.R369G
c.1105A>G
1 paper
NM_032866.5
p.L366P
c.1097T>C
3 papers
NM_032866.5
p.S459F
c.1376C>T
1 paper
NM_032866.5
p.Q463*
c.1387C>T
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