Varaico: Literature-Extracted Genetic Variants

Gene:PUDP

PUDP

38 papers

RefSeq Summary

This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alt...

Pfam Domains

HAD_2aa 11–194UCSCHaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

pseudouridine 5'-phosphatase

HGNC Previous Symbols

FAM16AX; HDHD1A; HDHD1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
1 paper
NM_012080.5
p.M1L
c.1A>T
1 paper
NM_012080.5
p.M1L
c.1A>C
1 paper
NM_012080.5
p.M1I
c.3G>T
1 paper
NM_012080.5
p.M1I
c.3G>C
1 paper
NM_012080.5
p.M1I
c.3G>A
1 paper
NM_012080.5
p.A2V
c.5C>T
1 paper
NM_012080.5
p.P5L
c.14C>T
1 paper
NM_012080.5
p.D14H
c.40G>C
1 paper
NM_012080.5
p.D14N
c.40G>A
1 paper
NM_012080.5
p.D14A
c.41A>C
1 paper
NM_012080.5
p.L18F
c.52C>T
1 paper
NM_012080.5
p.D21Splc
c.61+84G>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."