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.R860Q

c.2579G>A

Surrounding Variants

1 paper

NM_003922.4

p.L868S

c.2603T>C

3 papers

NM_003922.4

p.W875*

c.2624G>A

4 papers

NM_003922.4

p.W875*

c.2625G>A

1 paper

NM_003922.4

p.I843F

c.2527A>T

2 papers

NM_003922.4

p.N923S

c.2768A>G

1 paper

NM_003922.4

p.Q927E

c.2779C>G

1 paper

NM_003922.4

p.Y929fs

c.2785_2786fs

1 paper

NM_003922.4

p.Y929insFs

c.2786dupA

1 paper

NM_003922.4

p.T956_D957Splc

c.2868+2T>G

1 paper

NM_003922.4

p.E987K

c.2959G>A

1 paper

NM_003922.4

p.I1002V

c.3004A>G

1 paper

NM_003922.4

p.I1002M

c.3006C>G