Varaico: Literature-Extracted Genetic Variants

Gene:HYI

HYI

16 papers

RefSeq Summary

This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabol...

Pfam Domains

AP_endonuc_2aa 24–266UCSCXylose isomerase-like TIM barrel

Gene Aliases

HGNC Name

hydroxypyruvate isomerase (putative)

HGNC Alias Symbol

HT036

Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
3 papers
NM_001190880.3
p.S18P
c.52T>C
3 papers
NM_001190880.3
p.Y96C
c.287A>G
1 paper
NM_001190880.3
p.E33Q
c.97G>C
1 paper
NM_001190880.3
p.A84T
c.250G>A
1 paper
NM_001190880.3
p.I119T
c.356T>C
1 paper
NM_001190880.3
p.T165M
c.494C>T
1 paper
NM_001190880.3
p.M185I
c.555G>T
1 paper
NM_001190880.3
p.M185I
c.555G>C
1 paper
NM_001190880.3
p.M185I
c.555G>A
1 paper
NM_001190880.3
p.Q191Q
c.573G>A
1 paper
NM_001190880.3
p.Q212E
c.634C>G
1 paper
NM_001190880.3
p.C248S
c.742T>A
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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."