Varaico: Literature-Extracted Genetic Variants

Gene:HIP1R
Variant:p.L237V

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.L237V
c.709C>G
Surrounding Variants
1 paper
NM_003959.3
p.R212H
c.635G>A
1 paper
NM_003959.3
p.M206R
c.617T>G
1 paper
NM_003959.3
p.Q205*
c.613C>T
1 paper
NM_003959.3
p.S204A
c.610T>G
1 paper
NM_003959.3
p.R195*
c.583C>T
1 paper
NM_003959.3
p.V193Splc
c.578-110A>G
1 paper
NM_003959.3
p.R275W
c.823C>T
1 paper
NM_003959.3
p.P301L
c.902C>T
1 paper
NM_003959.3
p.I319T
c.956T>C
1 paper
NM_003959.3
p.L336H
c.1007T>A
1 paper
NM_003959.3
p.F341L
c.1021T>C
1 paper
NM_003959.3
p.N345S
c.1034A>G
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