Varaico: Literature-Extracted Genetic Variants

Gene:HHIPL2

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
1–12 of 103 variants
5 papers
NM_024746.4
p.H391D
c.1171C>G
3 papers
NM_024746.4
p.R394Q
c.1181G>A
3 papers
NM_024746.4
p.R434C
c.1300C>T
3 papers
NM_024746.4
p.K538T
c.1613A>C
2 papers
NM_024746.4
p.R93_H94insFs
c.279_280insGA
2 papers
NM_024746.4
p.H94fs
c.280_281fs
2 papers
NM_024746.4
p.P130L
c.389C>T
2 papers
NM_024746.4
p.V241M
c.721G>A
2 papers
NM_024746.4
p.L277V
c.829T>G
2 papers
NM_024746.4
p.F279_H280insGA
c.835_839ins6
2 papers
NM_024746.4
p.R305*
c.913C>T
2 papers
NM_024746.4
p.R434L
c.1301G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."