Varaico: Literature-Extracted Genetic Variants

Gene:HIP1R

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
1–12 of 130 variants
7 papers
NM_003959.3
p.C938F
c.2813G>T
4 papers
NM_003959.3
p.T538I
c.1613C>T
3 papers
NM_003959.3
p.A152V
c.455C>T
3 papers
NM_003959.3
p.V782M
c.2344G>A
3 papers
NM_003959.3
p.A911T
c.2731G>A
3 papers
NM_003959.3
p.R1031Q
c.3092G>A
2 papers
NM_003959.3
p.R586W
c.1756C>T
2 papers
NM_003959.3
p.Q916E
c.2746C>G
2 papers
NM_003959.3
p.N943S
c.2828A>G
1 paper
NM_003959.3
p.S3C
c.7A>T
1 paper
NM_003959.3
p.R14L
c.41G>T
1 paper
NM_003959.3
p.Q31*
c.91C>T
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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."