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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CGNL1

Variant:p.M1017V

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr15:57528663 A>G

NM_032866.5

p.M1017V

c.3049A>G

Myosin_tail_1

Exome: 0.3% (AC=4911, hom=28)Genome: 0.2% (AC=364, hom=1)19 overlapping SVs

Surrounding Variants

1 paper

chr15:57528657 C>T

NM_032866.5

p.R1015C

c.3043C>T

Myosin_tail_1

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=39, hom=0)19 overlapping SVs

1 paper

chr15:57528771 A>G

NM_032866.5

p.S1053G

c.3157A>G

Myosin_tail_1

Exome: 0.0% (AC=97, hom=0)Genome: 0.0% (AC=10, hom=0)19 overlapping SVs

1 paper

chr15:57524671 G>A

NM_032866.5

p.A987T

c.2959G>A

Myosin_tail_1

Exome: 0.0% (AC=302, hom=3)Genome: 0.0% (AC=14, hom=0)17 overlapping SVs

1 paper

chr15:57524647 A>G

NM_032866.5

p.K979E

c.2935A>G

Myosin_tail_1

exact variant not in gnomAD17 overlapping SVs

2 papers

chr15:57524632 C>A

NM_032866.5

p.Q974K

c.2920C>A

Myosin_tail_1

exact variant not in gnomAD17 overlapping SVs

1 paper

chr15:57524606 G>A

NM_032866.5

p.R965H

c.2894G>A

Myosin_tail_1

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=6, hom=0)17 overlapping SVs

1 paper

chr15:57523647 G>T

NM_032866.5

p.E956_M957Splc

c.2868+6G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a19 overlapping SVs

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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."