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.P182S

c.544C>T

Surrounding Variants

1 paper

NM_017912.4

p.P182L

c.545C>T

1 paper

NM_017912.4

p.Q173L

c.518A>T

1 paper

NM_017912.4

p.C199R

c.595T>C

1 paper

NM_017912.4

p.V222Splc

c.665-2A>G

1 paper

NM_017912.4

p.Q223K

c.667C>A

1 paper

NM_017912.4

p.V230I

c.688G>A

1 paper

NM_017912.4

p.A249V

c.746C>T

1 paper

NM_017912.4

p.C135R

c.403T>C

1 paper

NM_017912.4

p.D127V

c.380A>T

1 paper

NM_017912.4

p.M123fs

c.367_368fs

1 paper

NM_017912.4

p.Y302*

c.906T>A

1 paper

NM_017912.4

p.Y302*

c.906T>G