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

11 papers

NM_001348768.2

p.F1193V

c.3577T>G

Surrounding Variants

1 paper

NM_001348768.2

p.F1193L

c.3577T>C

1 paper

NM_001348768.2

p.F1193L

c.3579C>G

1 paper

NM_001348768.2

p.F1193L

c.3579C>A

17 papers

NM_001348768.2

p.R1191Q

c.3572G>A

7 papers

NM_001348768.2

p.A1195P

c.3583G>C

5 papers

NM_001348768.2

p.R1191W

c.3571C>T

3 papers

NM_001348768.2

p.K1196R

c.3587A>G

6 papers

NM_001348768.2

p.N1199K

c.3597C>G

7 papers

NM_001348768.2

p.N1199K

c.3597C>A

1 paper

NM_001348768.2

p.Y1201fs

c.3601_3602fs

1 paper

NM_001348768.2

p.Y1201insFs

c.3601_3602insT

1 paper

NM_001348768.2

p.R1202M

c.3605G>T