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

5 papers

NM_020771.4

p.Q152*

c.454C>T

Surrounding Variants

1 paper

NM_020771.4

p.H148_L150del3

c.442_449del9

1 paper

NM_020771.4

p.D158N

c.472G>A

1 paper

NM_020771.4

p.R143fs

c.427_428fs

1 paper

NM_020771.4

p.A162V

c.485C>T

2 papers

NM_020771.4

p.V140A

c.419T>C

1 paper

NM_020771.4

p.V140L

c.418G>T

1 paper

NM_020771.4

p.V140L

c.418G>C

2 papers

NM_020771.4

p.Q165*

c.493C>T

1 paper

NM_020771.4

p.W137*

c.410G>A

1 paper

NM_020771.4

p.Q173E

c.517C>G

1 paper

NM_020771.4

p.Q173P

c.518A>C

1 paper

NM_020771.4

p.N174D

c.520A>G