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.N747_A752del0

c.2239_2256del18

Surrounding Variants

1 paper

NM_005338.7

p.N747_M753delins

c.2239_2258delinsCA

1 paper

NM_005338.7

p.E746_A752del0

c.2237_2254del18

1 paper

NM_005338.7

p.L745_A752delins

c.2235_2254delinsAAAGCCAACAA

1 paper

NM_005338.7

p.E746_T751delins

c.2237_2253delinsTTCCT

1 paper

NM_005338.7

p.E746_T751del0

c.2237_2251del15

1 paper

NM_005338.7

p.E746_S750del0

c.2236_2250del15

1 paper

NM_005338.7

p.L745_S750del0

c.2235_2249del15

1 paper

NM_005338.7

p.L745_S750delins

c.2235_2248delinsAATTC

1 paper

NM_005338.7

p.S744_S750delins

c.2232_2248delinsAAAATTCC

1 paper

NM_005338.7

p.E746_A748del0

c.2236_2244del9

5 papers

NM_005338.7

p.D749N

c.2245G>A

1 paper

NM_005338.7

p.L745_A748delins

c.2235_2244delinsAATTCCCGTC