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

Selected Variant

1 paper

NM_015601.4

p.L257I

c.769C>A

Surrounding Variants

1 paper

NM_015601.4

p.S238L

c.713C>T

1 paper

NM_015601.4

p.G215*

c.643G>T

1 paper

NM_015601.4

p.T206T

c.618C>T

1 paper

NM_015601.4

p.V158F

c.472G>T

1 paper

NM_015601.4

p.L152F

c.454C>T

1 paper

NM_015601.4

p.K259_E260Splc

c.778-190T>A

1 paper

NM_015601.4

p.G261V

c.782G>T

1 paper

NM_015601.4

p.V263E

c.788T>A

1 paper

NM_015601.4

p.G275D

c.824G>A