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

1 paper

NM_001348768.2

p.I1313M

c.3939C>G

Surrounding Variants

5 papers

NM_001348768.2

p.L1314F

c.3940C>T

7 papers

NM_001348768.2

p.F1327S

c.3980T>C

17 papers

NM_001348768.2

p.R1330W

c.3988C>T

2 papers

NM_001348768.2

p.R1330Q

c.3989G>A

7 papers

NM_001348768.2

p.Y1277H

c.3829T>C

1 paper

NM_001348768.2

p.E1347V

c.4040A>T

1 paper

NM_001348768.2

p.D1350Y

c.4048G>T

1 paper

NM_001348768.2

p.E1351K

c.4051G>A

1 paper

NM_001348768.2

p.Q1355H

c.4065G>T

1 paper

NM_001348768.2

p.Q1355H

c.4065G>C

1 paper

NM_001348768.2

p.E1377K

c.4129G>A

1 paper

NM_001348768.2

p.E1404K

c.4210G>A