Varaico: Literature-Extracted Genetic Variants

HERC1

267 papers

RefSeq Summary

This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provi...

Pfam Domains

WD40_RLDaa 365–566UCSCRCC1-like domain

RCC1aa 580–629UCSCRegulator of chromosome condensation (RCC1) repeat

RCC1aa 632–680UCSCRegulator of chromosome condensation (RCC1) repeat

RCC1aa 683–733UCSCRegulator of chromosome condensation (RCC1) repeat

SPRYaa 2072–2191UCSCSPRY domain

WD40aa 3417–3456UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

HGNC Alias Symbols

p532; p619

Papers

RefSeq ID

Protein change

DNA change

1–12 of 403 variants

15 papers

NM_003922.4

p.G483E

c.1448G>A

5 papers

NM_003922.4

p.R3250*

c.9748C>T

5 papers

NM_003922.4

p.G4520E

c.13559G>A

4 papers

NM_003922.4

p.A276E

c.827C>A

4 papers

NM_003922.4

p.W875*

c.2625G>A

4 papers

NM_003922.4

p.I2220V

c.6658A>G

3 papers

NM_003922.4

p.W875*

c.2624G>A

3 papers

NM_003922.4

p.P3278S

c.9832C>T

3 papers

NM_003922.4

p.L4410R

c.13229T>G

2 papers

NM_003922.4

p.K11R

c.32A>G

2 papers

NM_003922.4

p.Q131_H132del1

c.393_395delTGC

2 papers

NM_003922.4

p.R308H

c.923G>A