Varaico: Literature-Extracted Genetic Variants

HACE1

128 papers

RefSeq Summary

This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or pro...

Pfam Domains

Ank_2aa 34–128UCSCAnkyrin repeats (3 copies)

Ank_2aa 120–194UCSCAnkyrin repeats (3 copies)

Ank_2aa 192–258UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

HGNC Alias Symbol

KIAA1320

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020771.4

p.Q618delFs

c.1852_1853delTG

Surrounding Variants

7 papers

NM_020771.4

p.Q618fs

c.1852_1853fs

1 paper

NM_020771.4

p.R598H

c.1793G>A

1 paper

NM_020771.4

p.M592_G593Splc

c.1776+20A>T

2 papers

NM_020771.4

p.R585W

c.1753C>T

1 paper

NM_020771.4

p.A576E

c.1727C>A

1 paper

NM_020771.4

p.E568del1

c.1702_1703delTTC

1 paper

NM_020771.4

p.W530*

c.1590G>A

1 paper

NM_020771.4

p.W530*

c.1589G>A

1 paper

NM_020771.4

p.G622Splc

c.1865-2A>G

1 paper

NM_020771.4

p.R642W

c.1924C>T

1 paper

NM_020771.4

p.L648L

c.1942T>C

1 paper

NM_001350555.2

p.A554T

c.1660G>A

NM_020771.4

p.A651T

c.1951G>A