Varaico: Literature-Extracted Genetic Variants

HECW2

176 papers

RefSeq Summary

This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line...

Pfam Domains

HECW_Naa 45–164UCSCN-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2

C2aa 186–300UCSCC2 domain

WWaa 809–838UCSCWW domain

HECW1_helixaa 915–981UCSCHelical box domain of E3 ubiquitin-protein ligase HECW1

HECTaa 1267–1572UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

HGNC Alias Symbols

KIAA1301; NEDL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_001348768.2

p.F1441L

c.4323T>G

Surrounding Variants

7 papers

NM_001348768.2

p.F1441L

c.4323T>A

7 papers

NM_001348768.2

p.F1441L

c.4321T>C

2 papers

NM_001348768.2

p.D1442G

c.4325A>G

5 papers

NM_001348768.2

p.R1444T

c.4331G>C

5 papers

NM_001348768.2

p.E1445Q

c.4333G>C

12 papers

NM_001348768.2

p.E1445G

c.4334A>G

1 paper

NM_001348768.2

p.E1445D

c.4335A>T

1 paper

NM_001348768.2

p.E1445D

c.4335A>C

5 papers

NM_001348768.2

p.L1448W

c.4343T>G

2 papers

NM_001348768.2

p.L1448S

c.4343T>C

1 paper

NM_001348768.2

p.E1431_V1432Splc

c.4294-1G>T

1 paper

NM_001348768.2

p.G1452S

c.4354G>A