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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UCN2

UCN2

11 papers

RefSeq Summary

This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endo...

Pfam Domains

CRFaa 72–109UCSCCorticotropin-releasing factor family

Gene Aliases

HGNC Name

urocortin 2

HGNC Alias Symbols

UCNI; URP; UCN-II

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr3:48563123 A>T

NM_033199.4

p.M1K

c.2T>A

exact variant not in gnomAD56 overlapping SVs

1 paper

chr3:48563046 T>G

NM_033199.4

p.T27P

c.79A>C

Exome: n/aGenome: 0.0% (AC=1, hom=0)56 overlapping SVs

1 paper

chr3:48563004 G>A

NM_033199.4

p.R41*

c.121C>T

Exome: 0.0% (AC=153, hom=0)Genome: 0.0% (AC=12, hom=0)56 overlapping SVs

1 paper

chr3:48562997 G>A

NM_033199.4

p.A43V

c.128C>T

Exome: 0.0% (AC=252, hom=0)Genome: 0.0% (AC=16, hom=0)57 overlapping SVs

1 paper

chr3:48562929 G>A

NM_033199.4

p.R66C

c.196C>T

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=1, hom=0)57 overlapping SVs

1 paper

chr3:48562916 G>A

NM_033199.4

p.S70L

c.209C>T

Exome: 0.0% (AC=190, hom=1)Genome: 0.0% (AC=23, hom=0)57 overlapping SVs

1 paper

chr3:48562823 G>T

NM_033199.4

p.T101N

c.302C>A

CRF

Exome: 0.0% (AC=237, hom=0)Genome: 0.0% (AC=9, hom=0)57 overlapping SVs

1 paper

chr3:48562819 G>C

NM_033199.4

p.N102K

c.306C>G

CRF

exact variant not in gnomAD57 overlapping SVs

1 paper

chr3:48562819 G>T

NM_033199.4

p.N102K

c.306C>A

CRF

Exome: 0.0% (AC=287, hom=0)Genome: 0.0% (AC=26, hom=0)57 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."