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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRB2

PRB2

80 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 i...

Pfam Domains

Pro-richaa 1–135UCSCProline-rich protein

Pro-richaa 318–416UCSCProline-rich protein

Gene Aliases

HGNC Name

proline rich protein BstNI subfamily 2

HGNC Alias Symbols

PRPPRB1; Ps; cP7

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 97 variants

6 papers

chr12:11393254 T>G

NM_006248.4

p.Q275P

c.824A>C

Exome: 0.2% (AC=1666, hom=0)Genome: 0.0% (AC=15, hom=0)27 overlapping SVs

5 papers

chr12:11393743 C>T

NM_006248.4

p.R112Q

c.335G>A

Pro-rich

Exome: 0.0% (AC=563, hom=0)Genome: 0.2% (AC=191, hom=0)26 overlapping SVs

4 papers

chr12:11393258 G>A

NM_006248.4

p.P274S

c.820C>T

Exome: 52.2% (AC=649436, hom=148457)Genome: 25.2% (AC=7865, hom=611)27 overlapping SVs

3 papers

chr12:11393830 G>T

NM_006248.4

p.P83Q

c.248C>A

Pro-rich

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=5, hom=0)26 overlapping SVs

3 papers

chr12:11393815 T>C

NM_006248.4

p.K88R

c.263A>G

Pro-rich

Exome: 0.0% (AC=52, hom=0)Genome: 0.0% (AC=13, hom=0)26 overlapping SVs

3 papers

chr12:11393808 T>C

NM_006248.4

p.Q90Q

c.270A>G

Pro-rich

Exome: 0.0% (AC=172, hom=0)Genome: 0.0% (AC=5, hom=0)26 overlapping SVs

3 papers

chr12:11393752 C>T

NM_006248.4

p.R109Q

c.326G>A

Pro-rich

Exome: 1.1% (AC=4441, hom=52)Genome: 0.9% (AC=576, hom=4)26 overlapping SVs

3 papers

chr12:11393375 C>G

NM_006248.4

p.A235P

c.703G>C

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=5, hom=0)25 overlapping SVs

3 papers

chr12:11393072 G>A

NM_006248.4

p.P336S

c.1006C>T

Pro-rich

Exome: 0.0% (AC=305, hom=0)Genome: 0.5% (AC=606, hom=0)28 overlapping SVs

2 papers

chr12:11393924 A>G

NM_006248.4

p.S52P

c.154T>C

Pro-rich

Exome: 1.5% (AC=15682, hom=0)Genome: 14.9% (AC=5931, hom=0)24 overlapping SVs

2 papers

chr12:11393921 GAGA>G

NM_006248.4

p.S52del1

c.154_155delAGA

Pro-rich

Exome: 0.0% (AC=527, hom=0)Genome: 0.0% (AC=50, hom=0)24 overlapping SVs

2 papers

chr12:11393865 G>A

NM_006248.4

p.P71P

c.213C>T

Pro-rich

Exome: 0.0% (AC=292, hom=0)Genome: 0.3% (AC=254, hom=0)26 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."