Varaico: Literature-Extracted Genetic Variants

Gene:PTAR1
Variant:p.N194D

PTAR1

19 papers

Pfam Domains

PPTAaa 121–150UCSCProtein prenyltransferase alpha subunit repeat
PPTAaa 177–208UCSCProtein prenyltransferase alpha subunit repeat
PPTAaa 216–247UCSCProtein prenyltransferase alpha subunit repeat
PPTAaa 292–323UCSCProtein prenyltransferase alpha subunit repeat

Gene Aliases

HGNC Name

protein prenyltransferase alpha subunit repeat containing 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001099666.2
p.N194D
c.580A>G
Surrounding Variants
1 paper
NM_001099666.2
p.A188A
c.564A>G
1 paper
NM_001099666.2
p.R172M
c.515G>T
1 paper
NM_001099666.2
p.Q152E
c.454C>G
1 paper
NM_001099666.2
p.L130F
c.390A>T
1 paper
NM_001099666.2
p.L130F
c.390A>C
1 paper
NM_001099666.2
p.L220P
c.659T>C
1 paper
NM_001099666.2
p.S228A
c.682T>G
1 paper
NM_001099666.2
p.Q250E
c.748C>G
1 paper
NM_001099666.2
p.S256C
c.767C>G
1 paper
NM_001099666.2
p.T281I
c.842C>T
1 paper
NM_001099666.2
p.P289A
c.865C>G
1 paper
NM_001099666.2
p.T103I
c.308C>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."