Varaico: Literature-Extracted Genetic Variants

Gene:CGNL1
Variant:p.G41S

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.G41S
c.121G>A
Surrounding Variants
1 paper
NM_032866.5
p.Q47E
c.139C>G
1 paper
NM_032866.5
p.S23I
c.68G>T
1 paper
NM_032866.5
p.S23_D24del1
c.69_71delTGA
1 paper
NM_032866.5
p.S23_D24del2
c.67_71del6
1 paper
NM_032866.5
p.C63*
c.189C>A
1 paper
NM_032866.5
p.F69_E71del3
c.205_212del9
1 paper
NM_032866.5
p.Y8delFs
c.23_24delAT
1 paper
NM_032866.5
p.Y4insFs
c.11dupA
1 paper
NM_032866.5
p.R115K
c.344G>A
2 papers
NM_032866.5
p.L122L
c.366C>G
1 paper
NM_032866.5
p.G135R
c.403G>A
1 paper
NM_032866.5
p.G135R
c.403G>C
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."