Varaico: Literature-Extracted Genetic Variants

Gene:HHIPL2
Variant:p.K619N

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.K619N
c.1857G>C
Surrounding Variants
1 paper
NM_024746.4
p.K619N
c.1857G>T
2 papers
NM_024746.4
p.R622Q
c.1865G>A
1 paper
NM_024746.4
p.P624P
c.1872G>A
2 papers
NM_024746.4
p.V614A
c.1841T>C
1 paper
NM_024746.4
p.A629T
c.1885G>A
1 paper
NM_024746.4
p.K642T
c.1925A>C
1 paper
NM_024746.4
p.K676E
c.2026A>G
2 papers
NM_024746.4
p.R680*
c.2038C>T
1 paper
NM_024746.4
p.G681R
c.2041G>C
1 paper
NM_024746.4
p.G681R
c.2041G>A
1 paper
NM_024746.4
p.K686T
c.2057A>C
1 paper
NM_024746.4
p.R695C
c.2083C>T
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