Varaico: Literature-Extracted Genetic Variants

Gene:HIP1R
Variant:p.V782M

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
3 papers
NM_003959.3
p.V782M
c.2344G>A
Surrounding Variants
1 paper
NM_003959.3
p.A792T
c.2374G>A
1 paper
NM_003959.3
p.E766K
c.2296G>A
1 paper
NM_003959.3
p.I760_L761insFs
c.2280_2281ins5
1 paper
NM_003959.3
p.E802_D803Splc
c.2407-1G>T
1 paper
NM_003959.3
p.D803N
c.2407G>A
1 paper
NM_003959.3
p.Q758delFs
c.2273delA
1 paper
NM_003959.3
p.P756_L757insFs
c.2268_2269ins8
1 paper
NM_003959.3
p.P756insFs
c.2267_2268insGG
1 paper
NM_003959.3
p.R754_T755insFs
c.2262_2263ins4
1 paper
NM_003959.3
p.S751I
c.2252G>T
1 paper
NM_003959.3
p.A811T
c.2431G>A
1 paper
NM_003959.3
p.A750V
c.2249C>T
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