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

2 papers

NM_005338.7

p.R577W

c.1729C>T

Surrounding Variants

1 paper

NM_005338.7

p.S562L

c.1685C>T

1 paper

NM_005338.7

p.Q599_D600delins

c.1796_1799delinsG

1 paper

NM_005338.7

p.E557K

c.1669G>A

1 paper

NM_005338.7

p.L556_E557delins

c.1668_1669delinsAA

1 paper

NM_005338.7

p.R620Q

c.1859G>A

1 paper

NM_005338.7

p.A638T

c.1912G>A

1 paper

NM_005338.7

p.Q525K

c.1573C>A

1 paper

NM_005338.7

p.D522Y

c.1564G>T

4 papers

NM_005338.7

p.R508Q

c.1523G>A

1 paper

NM_005338.7

p.D505Y

c.1513G>T

1 paper

NM_005338.7

p.L658I

c.1972C>A

1 paper

NM_005338.7

p.C681delins

c.2043delinsGGTGGCTCAC