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

1–12 of 74 variants

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

2 papers

NM_017912.4

p.Q364_D365Splc

c.1093-2A>G

1 paper

NM_017912.4

p.G6V

c.17G>T

1 paper

NM_017912.4

p.A29T

c.85G>A

1 paper

NM_017912.4

p.G56G

c.168C>A

1 paper

NM_017912.4

p.G59insFs

c.176dupG

1 paper

NM_017912.4

p.G59fs

c.175_176fs

1 paper

NM_017912.4

p.Q61K

c.181C>A

1 paper

NM_017912.4

p.E67A

c.200A>C

1 paper

NM_017912.4

p.P68T

c.202C>A