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.E388K

c.1162G>A

Surrounding Variants

1 paper

NM_017912.4

p.A387E

c.1160C>A

1 paper

NM_017912.4

p.A387G

c.1160C>G

1 paper

NM_017912.4

p.E401K

c.1201G>A

1 paper

NM_017912.4

p.G373G

c.1119G>A

1 paper

NM_017912.4

p.G373E

c.1118G>A

1 paper

NM_017912.4

p.R370H

c.1109G>A

2 papers

NM_017912.4

p.Q364_D365Splc

c.1093-2A>G

1 paper

NM_017912.4

p.S405Splc

c.1215-33G>A

1 paper

NM_017912.4

p.P414S

c.1240C>T

1 paper

NM_017912.4

p.L417L

c.1251G>A

1 paper

NM_017912.4

p.E429K

c.1285G>A

1 paper

NM_017912.4

p.Q364_D365Splc

c.1092+10A>C