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.R262*

c.784C>T

Surrounding Variants

1 paper

NM_003922.4

p.R258*

c.772C>T

1 paper

NM_003922.4

p.L250V

c.748T>G

4 papers

NM_003922.4

p.A276E

c.827C>A

1 paper

NM_003922.4

p.G243D

c.728G>A

1 paper

NM_003922.4

p.S223L

c.668C>T

2 papers

NM_003922.4

p.R308H

c.923G>A

1 paper

NM_003922.4

p.K213M

c.638A>T

1 paper

NM_003922.4

p.E198Q

c.592G>C

1 paper

NM_003922.4

p.P184L

c.551C>T

1 paper

NM_003922.4

p.P184S

c.550C>T

1 paper

NM_003922.4

p.M178I

c.534G>T

1 paper

NM_003922.4

p.M178I

c.534G>C