Varaico: Literature-Extracted Genetic Variants

HIP1

161 papers

RefSeq Summary

The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein i...

Pfam Domains

ANTHaa 39–308UCSCANTH domain

HIP1_clath_bdgaa 482–580UCSCClathrin-binding domain of Huntingtin-interacting protein 1

HIP1Raa 630–768UCSCHIP1R domain

I_LWEQaa 862–1010UCSCI/LWEQ domain

Gene Aliases

HGNC Name

huntingtin interacting protein 1

HGNC Alias Symbol

ILWEQ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005338.7

p.M208I

c.624G>A

Surrounding Variants

1 paper

NM_005338.7

p.M208I

c.624G>T

1 paper

NM_005338.7

p.M208I

c.624G>C

1 paper

NM_005338.7

p.Q219R

c.656A>G

1 paper

NM_005338.7

p.Q219H

c.657G>T

1 paper

NM_005338.7

p.Q219H

c.657G>C

2 papers

NM_005338.7

p.R221C

c.661C>T

1 paper

NM_005338.7

p.V228I

c.682G>A

1 paper

NM_005338.7

p.K241N

c.723G>T

1 paper

NM_005338.7

p.K241N

c.723G>C

1 paper

NM_005338.7

p.L242V

c.724C>G

1 paper

NM_005338.7

p.K245E

c.733A>G

1 paper

NM_005338.7

p.K245R

c.734A>G