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

8 papers

NM_020771.4

p.R748*

c.2242C>T

Surrounding Variants

1 paper

NM_020771.4

p.E739K

c.2215G>A

2 papers

NM_020771.4

p.K737_A738Splc

c.2212-1G>A

1 paper

NM_020771.4

p.K737_A738Splc

c.2212-2A>C

1 paper

NM_020771.4

p.F764F

c.2292T>C

1 paper

NM_020771.4

p.P770S

c.2308C>T

1 paper

NM_020771.4

p.L781_E782Splc

c.2343+3067A>C

1 paper

NM_020771.4

p.E782A

c.2345A>C

1 paper

NM_020771.4

p.G787A

c.2360G>C

1 paper

NM_020771.4

p.D795Y

c.2383G>T

1 paper

NM_020771.4

p.N799delFs

c.2396delT

1 paper

NM_020771.4

p.P811L

c.2432C>T

1 paper

NM_020771.4

p.Q814_W815Splc

c.2442+1G>T