Varaico: Literature-Extracted Genetic Variants

Gene:PRTFDC1
Variant:p.V172A

PRTFDC1

24 papers

Pfam Domains

Pribosyltranaa 43–203UCSCPhosphoribosyl transferase domain

Gene Aliases

HGNC Name

phosphoribosyl transferase domain containing 1

HGNC Alias Symbol

HHGP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020200.7
p.V172A
c.515T>C
Surrounding Variants
1 paper
NM_020200.7
p.R177K
c.530G>A
2 papers
NM_020200.7
p.Y185H
c.553T>C
1 paper
NM_020200.7
p.A168G
c.503C>G
1 paper
NM_020200.7
p.S155G
c.463A>G
1 paper
NM_020200.7
p.R148K
c.443G>A
1 paper
NM_020200.7
p.E141E
c.423G>A
1 paper
NM_020200.7
p.V140A
c.419T>C
3 papers
NM_020200.7
p.Y185H
c.553T>C
1 paper
NM_020200.7
p.F194fs
c.580_581fs
1 paper
NM_020200.7
p.K220E
c.658A>G
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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."