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

Selected Variant

1 paper

NM_003922.4

p.M4456V

c.13366A>G

Surrounding Variants

1 paper

NM_003922.4

p.Y4452H

c.13354T>C

1 paper

NM_003922.4

p.R4478W

c.13432A>T

1 paper

NM_003922.4

p.S4480L

c.13439C>T

1 paper

NM_003922.4

p.R4510*

c.13528C>T

1 paper

NM_003922.4

p.V4517L

c.13549G>C

5 papers

NM_003922.4

p.G4520E

c.13559G>A

1 paper

NM_003922.4

p.D4529A

c.13586A>C

1 paper

NM_003922.4

p.L4546V

c.13636C>G

1 paper

NM_003922.4

p.I4548T

c.13643T>C

1 paper

NM_003922.4

p.L4410L

c.13230C>T

3 papers

NM_003922.4

p.L4410R

c.13229T>G

1 paper

NM_003922.4

p.R4402W

c.13204C>T