Varaico: Literature-Extracted Genetic Variants

Gene:HIP1R
Variant:p.P301L

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.P301L
c.902C>T
Surrounding Variants
1 paper
NM_003959.3
p.I319T
c.956T>C
1 paper
NM_003959.3
p.R275W
c.823C>T
1 paper
NM_003959.3
p.L336H
c.1007T>A
1 paper
NM_003959.3
p.F341L
c.1021T>C
1 paper
NM_003959.3
p.N345S
c.1034A>G
1 paper
NM_003959.3
p.R352K
c.1055G>A
1 paper
NM_003959.3
p.S358R
c.1074C>G
1 paper
NM_003959.3
p.V363V
c.1089G>A
1 paper
NM_003959.3
p.D408_L412del0
c.1222_1236del15
1 paper
NM_003959.3
p.R413C
c.1237C>T
1 paper
NM_003959.3
p.R413H
c.1238G>A
1 paper
NM_003959.3
p.R420_L424del0
c.1258_1272del15
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."