Varaico: Literature-Extracted Genetic Variants

Gene:PINX1
Variant:p.K321N

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.K321N
c.963G>C
Surrounding Variants
1 paper
NM_017884.6
p.K321N
c.963G>T
1 paper
NM_017884.6
p.K325*
c.973A>T
1 paper
NM_017884.6
p.T317M
c.950C>T
1 paper
NM_017884.6
p.E316K
c.946G>A
1 paper
NM_017884.6
p.E315A
c.944A>C
1 paper
NM_017884.6
p.A312fs
c.934_935fs
1 paper
NM_017884.6
p.D311_A312insFs
c.931_934dup4
1 paper
NM_017884.6
p.A312T
c.934G>A
1 paper
NM_017884.6
p.D311Y
c.931G>T
1 paper
NM_017884.6
p.E307D
c.921G>T
1 paper
NM_017884.6
p.E307D
c.921G>C
1 paper
NM_017884.6
p.E307K
c.919G>A
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