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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNIH2

CNIH2

12 papers

RefSeq Summary

The protein encoded by this gene is an auxiliary subunit of the ionotropic glutamate receptor of the AMPA subtype. AMPA receptors mediate fast synaptic neurotransmission in the central nervous system....

Pfam Domains

Cornichonaa 7–47UCSCCornichon protein

Cornichonaa 50–151UCSCCornichon protein

Gene Aliases

HGNC Name

cornichon family AMPA receptor auxiliary protein 2

HGNC Alias Symbols

MGC50896; Cnil; CNIH-2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 16 variants

1 paper

chr11:66278463 T>C

NM_182553.3

p.F3L

c.7T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr11:66278465 C>A

NM_182553.3

p.F3L

c.9C>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr11:66278465 C>G

NM_182553.3

p.F3L

c.9C>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr11:66278469 T>C

NM_182553.3

p.F5L

c.13T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr11:66278471 C>A

NM_182553.3

p.F5L

c.15C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr11:66278471 C>G

NM_182553.3

p.F5L

c.15C>G

exact variant not in gnomAD33 overlapping SVs

1 paper

chr11:66278477 G>A

NM_182553.3

p.A7A

c.21G>A

Cornichon

Exome: 0.9% (AC=11774, hom=62)Genome: 0.7% (AC=1059, hom=5)33 overlapping SVs

1 paper

chr11:66282281 G>A

NM_182553.3

p.R35Q

c.104G>A

Cornichon

Exome: n/aGenome: 0.0% (AC=1, hom=0)34 overlapping SVs

1 paper

chr11:66282286 G>A

NM_182553.3

p.D37N

c.109G>A

Cornichon

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)34 overlapping SVs

1 paper

chr11:66282304 G>A

NM_182553.3

p.D43N

c.127G>A

Cornichon

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:66282769 C>T

NM_182553.3

p.L63F

c.187C>T

Cornichon

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:66283131 T>C

NM_182553.3

p.F99L

c.295T>C

Cornichon

exact variant not in gnomAD34 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."