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.M8insFs

c.22dupA

Surrounding Variants

1 paper

NM_005338.7

p.V11insFs

c.31dupG

1 paper

NM_005338.7

p.P12T

c.34C>A

1 paper

NM_005338.7

p.V11_P12delins

c.33_34delinsCT

1 paper

NM_005338.7

p.N13Fs

c.39delinsGCFs

1 paper

NM_005338.7

p.N13delins

c.38_39delinsTT

1 paper

NM_005338.7

p.D2insFs

c.5_6insAG

1 paper

NM_005338.7

p.M1_D2insFs

c.3_4insA

1 paper

NM_005338.7

p.G23A

c.68G>C

1 paper

NM_005338.7

p.A30T

c.88G>A

1 paper

NM_005338.7

p.A31V

c.92C>T

1 paper

NM_005338.7

p.Q40E

c.118C>G

1 paper

NM_005338.7

p.Q40_T41Splc

c.120+1419A>G