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.R459Splc

c.1375+2T>G

Surrounding Variants

1 paper

NM_005338.7

p.R459G

c.1375A>G

1 paper

NM_005338.7

p.S455fs

c.1363_1364fs

1 paper

NM_005338.7

p.S455insFs

c.1363dupT

1 paper

NM_005338.7

p.E436D

c.1308A>T

1 paper

NM_005338.7

p.E436D

c.1308A>C

1 paper

NM_005338.7

p.R434W

c.1300C>T

1 paper

NM_005338.7

p.A427S

c.1279G>T

2 papers

NM_005338.7

p.R423R

c.1269G>A

1 paper

NM_005338.7

p.E418delFs

c.1253delT

1 paper

NM_005338.7

p.H408H

c.1224C>T

1 paper

NM_005338.7

p.R459G

c.1375A>G

1 paper

NM_005338.7

p.E465*

c.1393G>T