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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HERC5

Variant:p.A561S

HERC5

69 papers

RefSeq Summary

This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endotheli...

Pfam Domains

WD40_RLDaa 130–373UCSCRCC1-like domain

HECTaa 731–1024UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT and RLD domain containing E3 ubiquitin protein ligase 5

HGNC Alias Symbol

CEB1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:88479451 G>T

NM_016323.4

p.A561S

c.1681G>T

exact variant not in gnomAD94 overlapping SVs

Surrounding Variants

1 paper

chr4:88479383 C>T

NM_016323.4

p.T538I

c.1613C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a93 overlapping SVs

1 paper

chr4:88475968 G>A

NM_016323.4

p.S507N

c.1520G>A

exact variant not in gnomAD93 overlapping SVs

3 papers

chr4:88475940 A>G

NM_016323.4

p.M498V

c.1492A>G

Exome: 36.1% (AC=527371, hom=104940)Genome: 47.8% (AC=72618, hom=20034)93 overlapping SVs

1 paper

chr4:88486181 A>G

NM_016323.4

p.N602D

c.1804A>G

exact variant not in gnomAD93 overlapping SVs

1 paper

chr4:88487159 G>C

NM_016323.4

p.D648H

c.1942G>C

exact variant not in gnomAD93 overlapping SVs

1 paper

chr4:88489229 G>T

NM_016323.4

p.A676S

c.2026G>T

Exome: 0.0% (AC=60, hom=0)Genome: 0.0% (AC=2, hom=0)93 overlapping SVs

1 paper

chr4:88489288 G>T

NM_016323.4

p.L695F

c.2085G>T

exact variant not in gnomAD93 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."