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.L299_R300delins

c.896_899delinsG

Surrounding Variants

1 paper

NM_005338.7

p.H307Q

c.921T>A

1 paper

NM_005338.7

p.A316V

c.947C>T

1 paper

NM_005338.7

p.A318V

c.953C>T

1 paper

NM_005338.7

p.E328Q

c.982G>C

1 paper

NM_005338.7

p.K329E

c.985A>G

1 paper

NM_005338.7

p.D334Y

c.1000G>T

1 paper

NM_005338.7

p.M335Fs

c.1003delinsGAFs

1 paper

NM_005338.7

p.Q340_N341Splc

c.1020+3G>T

1 paper

NM_005338.7

p.R284W

c.850C>T

2 papers

NM_005338.7

p.S277N

c.830G>A

2 papers

NM_005338.7

p.R275H

c.824G>A

1 paper

NM_005338.7

p.F343L

c.1027T>C