Varaico: Literature-Extracted Genetic Variants

Gene:PINX1
Variant:p.T220A

PINX1

50 papers

Pfam Domains

G-patchaa 26–70UCSCG-patch domain

Gene Aliases

HGNC Name

PIN2 (TERF1) interacting telomerase inhibitor 1

HGNC Alias Symbols

LPTL; LPTS; FLJ20565; MGC8850; Gno1; Pxr1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017884.6
p.T220A
c.658A>G
Surrounding Variants
5 papers
NM_017884.6
p.R215I
c.644G>T
2 papers
NM_017884.6
p.Q206H
c.618G>T
2 papers
NM_017884.6
p.Q206H
c.618G>C
1 paper
NM_017884.6
p.T205M
c.614C>T
1 paper
NM_017884.6
p.H235Y
c.703C>T
1 paper
NM_017884.6
p.V197A
c.590T>C
1 paper
NM_017884.6
p.A250V
c.749C>T
6 papers
NM_017884.6
p.S254C
c.760A>T
1 paper
NM_017884.6
p.S254S
c.762C>T
1 paper
NM_017884.6
p.A255P
c.763G>C
1 paper
NM_017884.6
p.R185W
c.553C>T
1 paper
NM_017884.6
p.F182insFs
c.544_545ins5
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