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.D505Y

c.1513G>T

Surrounding Variants

4 papers

NM_005338.7

p.R508Q

c.1523G>A

1 paper

NM_005338.7

p.D522Y

c.1564G>T

1 paper

NM_005338.7

p.Q525K

c.1573C>A

1 paper

NM_005338.7

p.R487Q

c.1460G>A

1 paper

NM_005338.7

p.N481D

c.1441A>G

1 paper

NM_005338.7

p.Q480H

c.1440G>T

1 paper

NM_005338.7

p.Q480H

c.1440G>C

1 paper

NM_005338.7

p.Y475H

c.1423T>C

1 paper

NM_005338.7

p.S469G

c.1405A>G

1 paper

NM_005338.7

p.R467Q

c.1400G>A

1 paper

NM_005338.7

p.E465Fs

c.1395delinsCAFs

1 paper

NM_005338.7

p.E465*

c.1393G>T