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

1–12 of 153 variants

5 papers

NM_005338.7

p.D749N

c.2245G>A

4 papers

NM_005338.7

p.R508Q

c.1523G>A

2 papers

NM_005338.7

p.K58E

c.172A>G

2 papers

NM_005338.7

p.R221C

c.661C>T

2 papers

NM_005338.7

p.R259P

c.776G>C

2 papers

NM_005338.7

p.R259Q

c.776G>A

2 papers

NM_005338.7

p.R275H

c.824G>A

2 papers

NM_005338.7

p.S277N

c.830G>A

2 papers

NM_005338.7

p.R423R

c.1269G>A

2 papers

NM_005338.7

p.R577W

c.1729C>T

1 paper

NM_005338.7

p.M1_D2insFs

c.3_4insA

1 paper

NM_005338.7

p.D2insFs

c.5_6insAG