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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUCA2B

GUCA2B

16 papers

RefSeq Summary

This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products, including uroguanylin, a member of the guanylin family of peptides and an endogenous ligand o...

Pfam Domains

Guanylinaa 26–111UCSCGuanylin precursor

Gene Aliases

HGNC Name

guanylate cyclase activator 2B

HGNC Previous Name

guanylate cyclase activator 2B (uroguanylin)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

3 papers

chr1:42153481 C>A

NM_007102.3

p.P11T

c.31C>A

Exome: 18.5% (AC=269935, hom=25785)Genome: 17.2% (AC=26171, hom=2334)163 overlapping SVs

1 paper

chr1:42153485 G>T

NM_007102.3

p.G12V

c.35G>T

exact variant not in gnomAD163 overlapping SVs

1 paper

chr1:42153517 A>G

NM_007102.3

p.S23G

c.67A>G

exact variant not in gnomAD163 overlapping SVs

1 paper

chr1:42153538 C>A

NM_007102.3

p.Q30K

c.88C>A

Guanylin

Exome: 0.0% (AC=79, hom=1)Genome: 0.0% (AC=12, hom=0)163 overlapping SVs

1 paper

chr1:42154683 C>A

NM_007102.3

p.Q32K

c.94C>A

Guanylin

exact variant not in gnomAD163 overlapping SVs

1 paper

chr1:42154721 G>A

NM_007102.3

p.L44L

c.132G>A

Guanylin

exact variant not in gnomAD163 overlapping SVs

1 paper

chr1:42154728 C>A

NM_007102.3

p.L47M

c.139C>A

Guanylin

exact variant not in gnomAD163 overlapping SVs

1 paper

chr1:42154743 G>A

NM_007102.3

p.A52T

c.154G>A

Guanylin

Exome: 0.0% (AC=1, hom=0)Genome: n/a163 overlapping SVs

1 paper

chr1:42154753 C>A

NM_007102.3

p.P55H

c.164C>A

Guanylin

Exome: 0.0% (AC=140, hom=0)Genome: 0.0% (AC=5, hom=0)163 overlapping SVs

1 paper

chr1:42154785 G>A

NM_007102.3

p.V66M

c.196G>A

Guanylin

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=2, hom=0)163 overlapping SVs

1 paper

chr1:42155525 C>G

NM_007102.3

p.R93Splc

c.278-10C>G

exact variant not in gnomAD163 overlapping SVs

1 paper

chr1:42155592 T>G

NM_007102.3

p.L112R

c.335T>G

exact variant not in gnomAD163 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."