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

4 papers

NM_003922.4

p.I2220V

c.6658A>G

Surrounding Variants

1 paper

NM_003922.4

p.Y2231*

c.6693C>G

1 paper

NM_003922.4

p.Y2231*

c.6693C>A

1 paper

NM_003922.4

p.V2184A

c.6551T>C

1 paper

NM_003922.4

p.R2259H

c.6776G>A

1 paper

NM_003922.4

p.S2263N

c.6788G>A

1 paper

NM_003922.4

p.T2284S

c.6850A>T

1 paper

NM_003922.4

p.T2284S

c.6851C>G

1 paper

NM_003922.4

p.L2299fs

c.6895_6896fs

1 paper

NM_003922.4

p.L2299_C2300delFs

c.6897_6898delAA

1 paper

NM_003922.4

p.G2312del1

c.6934_6935delTCC

1 paper

NM_003922.4

p.K2346R

c.7037A>G

1 paper

NM_003922.4

p.S2357N

c.7070G>A