Varaico: Literature-Extracted Genetic Variants

Gene:HIP1R
Variant:p.V193I

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.V193I
c.577G>A
Surrounding Variants
1 paper
NM_003959.3
p.F180insFs
c.538dupT
1 paper
NM_003959.3
p.E178K
c.532G>A
1 paper
NM_003959.3
p.N170delFs
c.508delA
3 papers
NM_003959.3
p.A152V
c.455C>T
1 paper
NM_003959.3
p.A152T
c.454G>A
1 paper
NM_003959.3
p.Q149*
c.445C>T
1 paper
NM_003959.3
p.R125C
c.373C>T
1 paper
NM_003959.3
p.G120R
c.358G>A
1 paper
NM_003959.3
p.G116R
c.346G>A
1 paper
NM_003959.3
p.S110R
c.330C>A
1 paper
NM_003959.3
p.R109C
c.325C>T
1 paper
NM_003959.3
p.L102R
c.305T>G
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