Varaico: Literature-Extracted Genetic Variants

Gene:HIP1R
Variant:p.L1054V

HIP1R

114 papers

Pfam Domains

ANTHaa 30–299UCSCANTH domain
HIP1_clath_bdgaa 461–559UCSCClathrin-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 related

HGNC Alias Symbols

KIAA0655; HIP3; HIP12; FLJ14000; ILWEQ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003959.3
p.L1054V
c.3160C>G
Surrounding Variants
1 paper
NM_003959.3
p.K1057R
c.3170A>G
1 paper
NM_003959.3
p.P1048S
c.3142C>T
3 papers
NM_003959.3
p.R1031Q
c.3092G>A
1 paper
NM_003959.3
p.R1025W
c.3073C>T
1 paper
NM_003959.3
p.R1000Q
c.2999G>A
1 paper
NM_003959.3
p.R1000W
c.2998C>T
1 paper
NM_003959.3
p.L988P
c.2963T>C
1 paper
NM_003959.3
p.G970D
c.2909G>A
1 paper
NM_003959.3
p.G970R
c.2908G>C
2 papers
NM_003959.3
p.N943S
c.2828A>G
1 paper
NM_003959.3
p.V942G
c.2825T>G
7 papers
NM_003959.3
p.C938F
c.2813G>T
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