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.Q238_G239Splc

c.714+1G>A

Surrounding Variants

1 paper

NM_020771.4

p.Q238_G239Splc

c.714+4T>A

1 paper

NM_020771.4

p.L233_L235delFs

c.697_703del7

1 paper

NM_020771.4

p.L233fs

c.697_698fs

1 paper

NM_020771.4

p.R219Q

c.656G>A

7 papers

NM_020771.4

p.R219*

c.655C>T

1 paper

NM_020771.4

p.L217R

c.650T>G

3 papers

NM_020771.4

p.Q209*

c.625C>T

1 paper

NM_020771.4

p.G240E

c.719G>A

1 paper

NM_020771.4

p.Y251H

c.751T>C

1 paper

NM_020771.4

p.H252N

c.754C>A

1 paper

NM_020771.4

p.T263A

c.787A>G

6 papers

NM_020771.4

p.R269*

c.805C>T