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

5 papers

NM_001348768.2

p.S1505T

c.4514G>C

Surrounding Variants

4 papers

NM_001348768.2

p.S1504C

c.4511C>G

7 papers

NM_001348768.2

p.S1504Y

c.4511C>A

5 papers

NM_001348768.2

p.T1503A

c.4507A>G

1 paper

NM_001348768.2

p.G1502A

c.4505G>C

1 paper

NM_001348768.2

p.G1516R

c.4546G>C

1 paper

NM_001348768.2

p.G1516R

c.4546G>A

1 paper

NM_001348768.2

p.N1518N

c.4554C>T

4 papers

NM_001348768.2

p.K1530N

c.4590A>T

4 papers

NM_001348768.2

p.K1530N

c.4590A>C

8 papers

NM_001348768.2

p.R1495S

c.4485G>T

8 papers

NM_001348768.2

p.R1495S

c.4485G>C

5 papers

NM_001348768.2

p.R1495K

c.4484G>A