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.E987K

c.2959G>A

Surrounding Variants

1 paper

NM_003922.4

p.I1002V

c.3004A>G

1 paper

NM_003922.4

p.I1002M

c.3006C>G

1 paper

NM_003922.4

p.N1003S

c.3008A>G

1 paper

NM_003922.4

p.I1005_S1006delFs

c.3015_3018del4

1 paper

NM_003922.4

p.I1005_S1006del2

c.3013_3017del6

1 paper

NM_003922.4

p.K1038T

c.3113A>C

1 paper

NM_003922.4

p.S1045C

c.3133A>T

1 paper

NM_003922.4

p.D1052Y

c.3154G>T

2 papers

NM_003922.4

p.P1074S

c.3220C>T

1 paper

NM_003922.4

p.R1079P

c.3236G>C

1 paper

NM_003922.4

p.Q1108H

c.3324G>T

1 paper

NM_003922.4

p.Q1108H

c.3324G>C