Varaico: Literature-Extracted Genetic Variants

Gene:HIP1R
Variant:p.E515*

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.E515*
c.1543G>T
Surrounding Variants
1 paper
NM_003959.3
p.Q513R
c.1538A>G
1 paper
NM_003959.3
p.E520*
c.1558G>T
1 paper
NM_003959.3
p.E508del1
c.1522_1523delGAG
1 paper
NM_003959.3
p.L528L
c.1584G>A
4 papers
NM_003959.3
p.T538I
c.1613C>T
1 paper
NM_003959.3
p.K467_N468Splc
c.1401+6T>C
1 paper
NM_003959.3
p.A462T
c.1384G>A
1 paper
NM_003959.3
p.E456*
c.1366G>T
1 paper
NM_003959.3
p.A440S
c.1318G>T
1 paper
NM_003959.3
p.S553N
c.1658G>A
1 paper
NM_003959.3
p.A554E
c.1661C>A
1 paper
NM_003959.3
p.A554A
c.1662G>A
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