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.P668L

c.2003C>T

Surrounding Variants

1 paper

NM_017912.4

p.Q661fs

c.1981_1982fs

1 paper

NM_017912.4

p.K663delFs

c.1988delA

1 paper

NM_017912.4

p.R678Q

c.2033G>A

1 paper

NM_017912.4

p.R680H

c.2039G>A

1 paper

NM_017912.4

p.M724T

c.2171T>C

1 paper

NM_017912.4

p.A749V

c.2246C>T

1 paper

NM_017912.4

p.L630V

c.1888C>G

1 paper

NM_017912.4

p.G600E

c.1799G>A

1 paper

NM_017912.4

p.P753R

c.2258C>G

1 paper

NM_017912.4

p.V774I

c.2320G>A

1 paper

NM_017912.4

p.P778S

c.2332C>T

1 paper

NM_017912.4

p.Y784insFs

c.2352dupT