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.R642W

c.1924C>T

Surrounding Variants

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

1 paper

NM_020771.4

p.G622Splc

c.1865-2A>G

6 papers

NM_020771.4

p.R664*

c.1990C>T

1 paper

NM_020771.4

p.H669fs

c.2005_2006fs

1 paper

NM_020771.4

p.G672Splc

c.2014+2T>C

7 papers

NM_020771.4

p.P674fs

c.2020_2021fs

1 paper

NM_020771.4

p.I673_P674insFs

c.2019_2020ins20

1 paper

NM_020771.4

p.I673_P674insFs

c.2019_2020ins17

1 paper

NM_020771.4

p.P674insFs

c.2020_2021ins17

1 paper

NM_020771.4

p.I673_P674ins5

c.2019_2020ins15

1 paper

NM_020771.4

p.P674ins5

c.2020_2021ins15