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.S53T

c.157T>A

Surrounding Variants

2 papers

NM_020771.4

p.S51*

c.152C>G

2 papers

NM_020771.4

p.S51*

c.152C>A

1 paper

NM_020771.4

p.L50del1

c.148_150delTAG

1 paper

NM_020771.4

p.R44Splc

c.132-2A>G

1 paper

NM_020771.4

p.L69V

c.205C>G

1 paper

NM_020771.4

p.I71T

c.212T>C

1 paper

NM_020771.4

p.A73T

c.217G>A

1 paper

NM_020771.4

p.Q42delFs

c.124delG

1 paper

NM_020771.4

p.Q42fs

c.124_125fs

1 paper

NM_020771.4

p.D26Splc

c.77-4T>C

7 papers

NM_020771.4

p.C80*

c.240C>A

1 paper

NM_020771.4

p.L83F

c.249G>T