Varaico: Literature-Extracted Genetic Variants

Gene:PINX1
Variant:p.S254S

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
1 paper
NM_017884.6
p.S254S
c.762C>T
Surrounding Variants
1 paper
NM_017884.6
p.A255P
c.763G>C
6 papers
NM_017884.6
p.S254C
c.760A>T
1 paper
NM_017884.6
p.A250V
c.749C>T
1 paper
NM_017884.6
p.L261F
c.781C>T
1 paper
NM_017884.6
p.G263D
c.788G>A
1 paper
NM_017884.6
p.C265Y
c.794G>A
1 paper
NM_017884.6
p.Q268L
c.803A>T
1 paper
NM_017884.6
p.H235Y
c.703C>T
1 paper
NM_017884.6
p.Q282*
c.844C>T
1 paper
NM_017884.6
p.E285K
c.853G>A
2 papers
NM_017884.6
p.T220A
c.658A>G
5 papers
NM_017884.6
p.R215I
c.644G>T
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