Varaico: Literature-Extracted Genetic Variants

Gene:HHIPL2
Variant:p.Y506C

HHIPL2

82 papers

Pfam Domains

Folate_recaa 44–206UCSCFolate receptor family
GSDHaa 216–551UCSCGlucose / Sorbosone dehydrogenase

Gene Aliases

HGNC Name

HHIP like 2

HGNC Previous Symbol

KIAA1822L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024746.4
p.Y506C
c.1517A>G
Surrounding Variants
1 paper
NM_024746.4
p.S499S
c.1497A>G
2 papers
NM_024746.4
p.L487M
c.1459C>A
1 paper
NM_024746.4
p.D485N
c.1453G>A
1 paper
NM_024746.4
p.C478R
c.1432T>C
1 paper
NM_024746.4
p.V453A
c.1358T>C
1 paper
NM_024746.4
p.V453L
c.1357G>C
1 paper
NM_024746.4
p.R449K
c.1346G>A
2 papers
NM_024746.4
p.V445M
c.1333G>A
1 paper
NM_024746.4
p.R439W
c.1315C>T
1 paper
NM_024746.4
p.G436A
c.1307G>C
2 papers
NM_024746.4
p.R434L
c.1301G>T
3 papers
NM_024746.4
p.R434C
c.1300C>T
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