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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNRIP1

CNRIP1

10 papers

RefSeq Summary

This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSe...

Pfam Domains

CNRIP1aa 4–163UCSCCB1 cannabinoid receptor-interacting protein 1

Gene Aliases

HGNC Name

cannabinoid receptor interacting protein 1

HGNC Previous Symbol

C2orf32

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr2:68319343 C>T

NM_015463.3

p.D20N

c.58G>A

CNRIP1

Exome: 0.0% (AC=0, hom=0)Genome: n/a150 overlapping SVs

1 paper

chr2:68319242 T>C

NM_015463.3

p.K53K

c.159A>G

CNRIP1

Exome: 45.7% (AC=637365, hom=148618)Genome: 47.0% (AC=71444, hom=17233)150 overlapping SVs

1 paper

chr2:68317279 G>A

NM_015463.3

p.P70S

c.208C>T

CNRIP1

Exome: 0.0% (AC=1, hom=0)Genome: n/a150 overlapping SVs

1 paper

chr2:68317230 G>A

NM_015463.3

p.T86M

c.257C>T

CNRIP1

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=3, hom=0)150 overlapping SVs

1 paper

chr2:68317183 G>A

NM_015463.3

p.R102W

c.304C>T

CNRIP1

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=2, hom=0)150 overlapping SVs

1 paper

chr2:68293955 G>C

NM_015463.3

p.C134W

c.402C>G

CNRIP1

exact variant not in gnomAD147 overlapping SVs

1 paper

chr2:68293929 A>G

NM_015463.3

p.I143T

c.428T>C

CNRIP1

Exome: 0.0% (AC=39, hom=0)Genome: n/a147 overlapping SVs

1 paper

chr2:68293913 C>A

NM_015463.3

p.K148N

c.444G>T

CNRIP1

exact variant not in gnomAD147 overlapping SVs

1 paper

chr2:68293913 C>G

NM_015463.3

p.K148N

c.444G>C

CNRIP1

exact variant not in gnomAD147 overlapping SVs

1 paper

chr2:68293900 G>A

NM_015463.3

p.R153C

c.457C>T

CNRIP1

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=3, hom=0)147 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."