Varaico: Literature-Extracted Genetic Variants

Gene:HIP1R
Variant:p.C938F

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
7 papers
NM_003959.3
p.C938F
c.2813G>T
Surrounding Variants
1 paper
NM_003959.3
p.V942G
c.2825T>G
1 paper
NM_003959.3
p.R934C
c.2800C>T
2 papers
NM_003959.3
p.N943S
c.2828A>G
1 paper
NM_003959.3
p.S933G
c.2797A>G
1 paper
NM_003959.3
p.G970R
c.2908G>C
1 paper
NM_003959.3
p.G970D
c.2909G>A
1 paper
NM_003959.3
p.A919V
c.2756C>T
1 paper
NM_003959.3
p.Q916H
c.2748G>C
1 paper
NM_003959.3
p.Q916H
c.2748G>T
2 papers
NM_003959.3
p.Q916E
c.2746C>G
1 paper
NM_003959.3
p.A912V
c.2735C>T
3 papers
NM_003959.3
p.A911T
c.2731G>A
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