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

5 papers

NM_003922.4

p.R3250*

c.9748C>T

Surrounding Variants

1 paper

NM_003922.4

p.G3251D

c.9752G>A

1 paper

NM_003922.4

p.C3226G

c.9676T>G

1 paper

NM_003922.4

p.L3224*

c.9671T>G

1 paper

NM_003922.4

p.L3224*

c.9671T>A

1 paper

NM_003922.4

p.R3223*

c.9667C>T

3 papers

NM_003922.4

p.P3278S

c.9832C>T

1 paper

NM_003922.4

p.Q3290R

c.9869A>G

1 paper

NM_003922.4

p.S3307L

c.9920C>T

1 paper

NM_003922.4

p.R3310*

c.9928C>T

1 paper

NM_003922.4

p.S3315R

c.9943A>C

1 paper

NM_003922.4

p.S3315R

c.9945C>G

1 paper

NM_003922.4

p.S3315R

c.9945C>A