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

2 papers

NM_003922.4

p.K11R

c.32A>G

Surrounding Variants

1 paper

NM_003922.4

p.P7T

c.19C>A

1 paper

NM_003922.4

p.T3S

c.8C>G

1 paper

NM_003922.4

p.M1del1

c.1_2delCAT

1 paper

NM_003922.4

p.M1delFs

c.1delT

1 paper

NM_003922.4

p.E26*

c.76G>T

1 paper

NM_003922.4

p.G33_A35Fs

c.98_104delinsTCCFs

1 paper

NM_003922.4

p.Q61K

c.181C>A

1 paper

NM_003922.4

p.D64fs

c.190_191fs

1 paper

NM_003922.4

p.D73A

c.218A>C

1 paper

NM_003922.4

p.D80H

c.238G>C

1 paper

NM_003922.4

p.V93A

c.278T>C

1 paper

NM_003922.4

p.D96A

c.287A>C