Varaico: Literature-Extracted Genetic Variants

Gene:CGNL1

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
1–12 of 91 variants
3 papers
NM_032866.5
p.R343W
c.1027C>T
3 papers
NM_032866.5
p.S459F
c.1376C>T
3 papers
NM_032866.5
p.M1017V
c.3049A>G
2 papers
NM_032866.5
p.L122L
c.366C>G
2 papers
NM_032866.5
p.R369G
c.1105A>G
2 papers
NM_032866.5
p.G396V
c.1187G>T
2 papers
NM_032866.5
p.R823H
c.2468G>A
2 papers
NM_032866.5
p.Q974K
c.2920C>A
2 papers
NM_032866.5
p.I1155I
c.3465C>T
1 paper
NM_032866.5
p.Y4insFs
c.11dupA
1 paper
NM_032866.5
p.Y8delFs
c.23_24delAT
1 paper
NM_032866.5
p.S23_D24del2
c.67_71del6
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."