Varaico: Literature-Extracted Genetic Variants

Gene:PINX1
Variant:p.Q50H

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
4 papers
NM_017884.6
p.Q50H
c.150A>T
Surrounding Variants
4 papers
NM_017884.6
p.Q50H
c.150A>C
1 paper
NM_017884.6
p.A47_Q48delFs
c.141_142delGA
1 paper
NM_017884.6
p.A47G
c.140C>G
1 paper
NM_017884.6
p.I56delFs
c.167delA
1 paper
NM_017884.6
p.D75E
c.225C>G
1 paper
NM_017884.6
p.D75E
c.225C>A
1 paper
NM_017884.6
p.F84Y
c.251T>A
1 paper
NM_017884.6
p.L91M
c.271C>A
1 paper
NM_017884.6
p.H95H
c.285T>C
1 paper
NM_017884.6
p.K43_G44Splc
c.129+18G>A
1 paper
NM_017884.6
p.K43_G44Splc
c.129+1G>C
1 paper
NM_017884.6
p.K43_G44Splc
c.129+1G>A
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