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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRR4

Variant:p.R96Q

PRR4

17 papers

RefSeq Summary

This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in ...

Pfam Domains

Pro-richaa 1–133UCSCProline-rich protein

Gene Aliases

HGNC Name

proline rich 4

HGNC Previous Symbol

PROL4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

4 papers

chr12:10847181 C>T

NM_007244.3

p.R96Q

c.287G>A

Pro-rich

Exome: 57.8% (AC=844212, hom=247888)Genome: 48.9% (AC=74201, hom=20668)20 overlapping SVs

Surrounding Variants

1 paper

chr12:10847214 G>C

NM_007244.3

p.P85R

c.254C>G

Pro-rich

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=1, hom=0)20 overlapping SVs

1 paper

chr12:10847110 G>A

NM_007244.3

p.Q120*

c.358C>T

Pro-rich

Exome: 0.0% (AC=109, hom=0)Genome: 0.0% (AC=10, hom=0)20 overlapping SVs

3 papers

chr12:10847109 T>C

NM_007244.3

p.Q120R

c.359A>G

Pro-rich

Exome: 82.4% (AC=1201796, hom=499136)Genome: 72.5% (AC=110183, hom=42612)20 overlapping SVs

2 papers

chr12:10849394 G>C

NM_007244.3

p.S15*

c.44C>G

Pro-rich

Exome: 0.0% (AC=0, hom=0)Genome: n/a18 overlapping SVs

2 papers

chr12:10849394 G>T

NM_007244.3

p.S15*

c.44C>A

Pro-rich

Exome: 0.0% (AC=0, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr12:10849429 C>CA

NM_007244.3

p.L3insFs

c.8dupT

Pro-rich

exact variant not in gnomAD18 overlapping SVs

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