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

1–12 of 165 variants

14 papers

NM_020771.4

p.C876S

c.2627G>C

13 papers

NM_020771.4

p.C876S

c.2626T>A

8 papers

NM_020771.4

p.R748*

c.2242C>T

7 papers

NM_020771.4

p.C80*

c.240C>A

7 papers

NM_020771.4

p.R219*

c.655C>T

7 papers

NM_020771.4

p.Q618fs

c.1852_1853fs

7 papers

NM_020771.4

p.P674fs

c.2020_2021fs

7 papers

NM_020771.4

p.L832del1

c.2494_2495delTAA

6 papers

NM_020771.4

p.R269*

c.805C>T

6 papers

NM_020771.4

p.R664*

c.1990C>T

5 papers

NM_020771.4

p.A134_I135Splc

c.402+5G>A

5 papers

NM_020771.4

p.Q152*

c.454C>T