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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HERC3

Variant:p.M933L

HERC3

50 papers

RefSeq Summary

This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with color...

Pfam Domains

WD40_RLDaa 1–376UCSCRCC1-like domain

HECTaa 744–1042UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT and RLD domain containing E3 ubiquitin protein ligase 3

HGNC Alias Symbol

KIAA0032

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr4:88704237 A>C

NM_014606.3

p.M933L

c.2797A>C

HECT

exact variant not in gnomAD94 overlapping SVs

Surrounding Variants

2 papers

chr4:88704237 A>T

NM_014606.3

p.M933L

c.2797A>T

HECT

Exome: 0.5% (AC=6739, hom=22)Genome: 0.3% (AC=421, hom=3)94 overlapping SVs

1 paper

chr4:88704217 A>G

NM_014606.3

p.Q926R

c.2777A>G

HECT

Exome: n/aGenome: 0.0% (AC=1, hom=0)94 overlapping SVs

1 paper

chr4:88704276 G>C

NM_014606.3

p.E946Q

c.2836G>C

HECT

Exome: 16.5% (AC=241269, hom=20841)Genome: 18.0% (AC=27378, hom=2598)94 overlapping SVs

1 paper

chr4:88704162 G>T

NM_014606.3

p.A908S

c.2722G>T

HECT

Exome: 0.0% (AC=3, hom=0)Genome: n/a94 overlapping SVs

1 paper

chr4:88706941 A>G

NM_014606.3

p.E1045G

c.3134A>G

HECT

exact variant not in gnomAD94 overlapping SVs

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