Varaico: Literature-Extracted Genetic Variants

Gene:PINX1
Variant:p.S2C

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.S2C
c.5C>G
Surrounding Variants
1 paper
NM_017884.6
p.R7Splc
c.19+1G>T
1 paper
NM_017884.6
p.D16G
c.47A>G
1 paper
NM_017884.6
p.R32insFs
c.94_95dupCG
1 paper
NM_017884.6
p.M33fs
c.97_98fs
1 paper
NM_017884.6
p.M37I
c.111G>T
1 paper
NM_017884.6
p.M37I
c.111G>C
1 paper
NM_017884.6
p.M37I
c.111G>A
1 paper
NM_017884.6
p.W39L
c.116G>T
1 paper
NM_017884.6
p.K43_G44Splc
c.129+1G>C
1 paper
NM_017884.6
p.K43_G44Splc
c.129+1G>A
1 paper
NM_017884.6
p.K43_G44Splc
c.129+18G>A
1 paper
NM_017884.6
p.A47G
c.140C>G
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