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.P886S

c.2656C>T

Surrounding Variants

2 papers

NM_020771.4

p.S887R

c.2659A>C

2 papers

NM_020771.4

p.S887R

c.2661T>G

2 papers

NM_020771.4

p.S887R

c.2661T>A

1 paper

NM_020771.4

p.I877fs

c.2629_2630fs

1 paper

NM_020771.4

p.C876*

c.2628C>A

14 papers

NM_020771.4

p.C876S

c.2627G>C

13 papers

NM_020771.4

p.C876S

c.2626T>A

1 paper

NM_020771.4

p.Y904C

c.2711A>G

3 papers

NM_020771.4

p.A861P

c.2581G>C

1 paper

NM_020771.4

p.A861T

c.2581G>A