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.Q384*

c.1150C>T

Surrounding Variants

2 papers

NM_003922.4

p.W377L

c.1130G>T

1 paper

NM_003922.4

p.S403C

c.1208C>G

1 paper

NM_003922.4

p.D358N

c.1072G>A

1 paper

NM_003922.4

p.S351delFs

c.1052delG

2 papers

NM_003922.4

p.T420M

c.1259C>T

1 paper

NM_003922.4

p.S423F

c.1268C>T

1 paper

NM_003922.4

p.C427insFs

c.1280dupG

1 paper

NM_003922.4

p.S444insFs

c.1330_1331insA

1 paper

NM_003922.4

p.L471S

c.1412T>C

1 paper

NM_003922.4

p.W482L

c.1445G>T

15 papers

NM_003922.4

p.G483E

c.1448G>A

1 paper

NM_003922.4

p.Q509*

c.1525C>T