Varaico: Literature-Extracted Genetic Variants

HERC4

46 papers

RefSeq Summary

HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze th...

Pfam Domains

WD40_RLDaa 1–375UCSCRCC1-like domain

HECTaa 759–1057UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT and RLD domain containing E3 ubiquitin protein ligase 4

HGNC Alias Symbols

DKFZP564G092; KIAA1593

Papers

RefSeq ID

Protein change

DNA change

1–12 of 42 variants

2 papers

NM_015601.4

p.Q65H

c.195G>T

1 paper

NM_015601.4

p.M1insFs

c.1_2ins14

1 paper

NM_015601.4

p.W4C

c.12G>T

1 paper

NM_015601.4

p.W4C

c.12G>C

1 paper

NM_015601.4

p.D18V

c.53A>T

1 paper

NM_015601.4

p.G40*

c.118G>T

1 paper

NM_015601.4

p.Y56H

c.166T>C

1 paper

NM_015601.4

p.Q65H

c.195G>C

1 paper

NM_015601.4

p.A88P

c.262G>C

1 paper

NM_015601.4

p.V105M

c.313G>A

1 paper

NM_015601.4

p.L152F

c.454C>T

1 paper

NM_015601.4

p.V158F

c.472G>T