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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRB4

PRB4

81 papers

RefSeq Summary

This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature p...

Pfam Domains

Pro-richaa 1–172UCSCProline-rich protein

Pro-richaa 130–241UCSCProline-rich protein

Gene Aliases

HGNC Name

proline rich protein BstNI subfamily 4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 66 variants

12 papers

chr12:11308615 G>C

NM_002723.6

p.P123R

c.368C>G

Pro-rich

Exome: 0.1% (AC=213, hom=0)Genome: 0.2% (AC=38, hom=0)26 overlapping SVs

7 papers

chr12:11308835 G>T

NM_002723.6

p.P50T

c.148C>A

Pro-rich

Exome: 0.0% (AC=141, hom=1)Genome: 0.0% (AC=23, hom=0)25 overlapping SVs

7 papers

chr12:11308811 G>C

NM_002723.6

p.Q58E

c.172C>G

Pro-rich

Exome: 1.2% (AC=12724, hom=0)Genome: 7.5% (AC=3254, hom=0)26 overlapping SVs

6 papers

chr12:11308772 G>T

NM_002723.6

p.P71T

c.211C>A

Pro-rich

Exome: 40.5% (AC=287443, hom=1)Genome: 34.8% (AC=26864, hom=0)26 overlapping SVs

4 papers

chr12:11308868 G>A

NM_002723.6

p.R39*

c.115C>T

Pro-rich

Exome: 17.7% (AC=245291, hom=14873)Genome: 14.1% (AC=21245, hom=1945)24 overlapping SVs

4 papers

chr12:11308636 G>T

NM_002723.6

p.P116H

c.347C>A

Pro-rich

Exome: 23.3% (AC=71388, hom=27)Genome: 14.3% (AC=3485, hom=23)26 overlapping SVs

4 papers

chr12:11308619 T>C

NM_002723.6

p.R122G

c.364A>G

Pro-rich

Exome: 8.5% (AC=23112, hom=1)Genome: 14.1% (AC=1718, hom=2)26 overlapping SVs

4 papers

chr12:11308289 G>A

NM_002723.6

p.Q232*

c.694C>T

Pro-rich

Exome: 0.1% (AC=1108, hom=13)Genome: 0.1% (AC=205, hom=4)25 overlapping SVs

3 papers

chr12:11308587 G>C

NM_002723.6

p.H132Q

c.396C>G

Pro-rich

exact variant not in gnomAD26 overlapping SVs

3 papers

chr12:11308587 G>T

NM_002723.6

p.H132Q

c.396C>A

Pro-rich

Exome: 0.0% (AC=113, hom=0)Genome: 0.4% (AC=95, hom=0)26 overlapping SVs

2 papers

chr12:11308864 C>G

NM_002723.6

p.R40P

c.119G>C

Pro-rich

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=17, hom=0)25 overlapping SVs

2 papers

chr12:11308844 G>A

NM_002723.6

p.P47S

c.139C>T

Pro-rich

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=2, hom=0)25 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."