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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PARVB

PARVB

34 papers

RefSeq Summary

This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and conta...

Pfam Domains

CHaa 87–195UCSCCalponin homology (CH) domain

CHaa 254–362UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

parvin beta

HGNC Alias Symbol

CGI-56

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 23 variants

1 paper

chr22:44004818 G>A

NM_001003828.3

p.V71Splc

c.211+5145G>A

Exome: n/aGenome: 44.1% (AC=67070, hom=15082)5 overlapping SVs

1 paper

chr22:44024359 C>T

NM_013327.5

p.S7L

c.20C>T

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr22:44024393 C>T

NM_013327.5

p.D18D

c.54C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr22:44024446 G>A

NM_013327.5

p.R36H

c.107G>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=4, hom=0)9 overlapping SVs

1 paper

chr22:44093970 C>G

NM_013327.5

p.P52R

c.155C>G

Exome: 0.2% (AC=2999, hom=93)Genome: 1.9% (AC=2879, hom=105)8 overlapping SVs

1 paper

chr22:44093988 T>C

NM_013327.5

p.V58A

c.173T>C

Exome: 77.5% (AC=1129932, hom=440216)Genome: 82.5% (AC=125654, hom=52574)8 overlapping SVs

1 paper

chr22:44100061 G>A

NM_013327.5

p.E71K

c.211G>A

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=8, hom=0)7 overlapping SVs

1 paper

chr22:44100073 A>G

NM_013327.5

p.M75V

c.223A>G

Exome: 0.4% (AC=5866, hom=20)Genome: 0.4% (AC=575, hom=1)7 overlapping SVs

1 paper

chr22:44131591 C>T

NM_013327.5

p.R161W

c.481C>T

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=3, hom=0)4 overlapping SVs

1 paper

chr22:44131621 G>A

NM_013327.5

p.V171M

c.511G>A

Exome: 0.0% (AC=100, hom=1)Genome: 0.0% (AC=13, hom=0)4 overlapping SVs

1 paper

chr22:44132950 C>A

NM_001243385.2

p.H155N

c.463C>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)4 overlapping SVs

1 paper

chr22:44133008 G>C

NM_013327.5

p.R211P

c.632G>C

exact variant not in gnomAD4 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."