Varaico: Literature-Extracted Genetic Variants

HERC6

61 papers

RefSeq Summary

HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze th...

Pfam Domains

WD40_RLDaa 1–360UCSCRCC1-like domain

HECTaa 722–1016UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT and RLD domain containing E3 ubiquitin protein ligase family member 6

HGNC Alias Symbol

FLJ20637

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017912.4

p.Y302*

c.906T>A

Surrounding Variants

1 paper

NM_017912.4

p.Y302*

c.906T>G

1 paper

NM_017912.4

p.V303M

c.907G>A

1 paper

NM_017912.4

p.V310I

c.928G>A

1 paper

NM_017912.4

p.H324N

c.970C>A

1 paper

NM_017912.4

p.A327_T329del0

c.980_985del6

3 papers

NM_017912.4

p.F343L

c.1027T>C

3 papers

NM_017912.4

p.F343L

c.1029C>A

3 papers

NM_017912.4

p.F343L

c.1029C>G

1 paper

NM_017912.4

p.H350L

c.1049A>T

1 paper

NM_017912.4

p.Q364_D365Splc

c.1092+10A>C

1 paper

NM_017912.4

p.A249V

c.746C>T

1 paper

NM_017912.4

p.V230I

c.688G>A