Varaico: Literature-Extracted Genetic Variants

POT1

610 papers

RefSeq Summary

This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to t...

Pfam Domains

POT1aa 11–141UCSCTelomeric single stranded DNA binding POT1/CDC13

POT1PCaa 152–298UCSCssDNA-binding domain of telomere protection protein

POT1_C_insertaa 395–537UCSCProtection of telomeres protein 1 (POT1), C-terminal insertion domain

Gene Aliases

HGNC Name

protection of telomeres 1

HGNC Alias Symbols

hPot1; DKFZp586D211

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015450.3

p.Q87*

c.259C>T

Surrounding Variants

4 papers

NM_015450.3

p.I86insFs

c.258dupT

2 papers

NM_015450.3

p.Q87fs

c.259_260fs

1 paper

NM_015450.3

p.Q87R

c.260A>G

1 paper

NM_015450.3

p.Q87fs

c.259_260fs

1 paper

NM_015450.3

p.V88L

c.262G>T

1 paper

NM_015450.3

p.V88G

c.263T>G

2 papers

NM_015450.3

p.V88A

c.263T>C

1 paper

NM_015450.3

p.K85_I86Splc

c.256-1G>A

1 paper

NM_015450.3

p.Y89D

c.265T>G

3 papers

NM_015450.3

p.Y89H

c.265T>C

3 papers

NM_015450.3

p.Y89N

c.265T>A

30 papers

NM_015450.3

p.Y89C

c.266A>G