Varaico: Literature-Extracted Genetic Variants

Gene:HIP1R
Variant:p.Q595*

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.Q595*
c.1783C>T
Surrounding Variants
1 paper
NM_003959.3
p.G596G
c.1788C>T
1 paper
NM_003959.3
p.R590H
c.1769G>A
1 paper
NM_003959.3
p.R601Q
c.1802G>A
1 paper
NM_003959.3
p.Q588L
c.1763A>T
1 paper
NM_003959.3
p.R586Q
c.1757G>A
2 papers
NM_003959.3
p.R586W
c.1756C>T
1 paper
NM_003959.3
p.E581fs
c.1741_1742fs
1 paper
NM_003959.3
p.E581delFs
c.1742_1743delAG
1 paper
NM_003959.3
p.E579G
c.1736A>G
1 paper
NM_003959.3
p.R564W
c.1690C>T
1 paper
NM_003959.3
p.A562T
c.1684G>A
1 paper
NM_003959.3
p.G561V
c.1682G>T
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