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.L259*

c.776T>G

Surrounding Variants

9 papers

NM_015450.3

p.L259S

c.776T>C

1 paper

NM_015450.3

p.L259*

c.776T>A

1 paper

NM_015450.3

p.M258I

c.774G>T

1 paper

NM_015450.3

p.M258I

c.774G>C

1 paper

NM_015450.3

p.M258I

c.774G>A

1 paper

NM_015450.3

p.M258_L259insT

c.772_776ins3

1 paper

NM_015450.3

p.L261S

c.782T>C

2 papers

NM_015450.3

p.E262Q

c.784G>C

1 paper

NM_015450.3

p.E262K

c.784G>A

1 paper

NM_015450.3

p.Q256R

c.767A>G

1 paper

NM_015450.3

p.F263L

c.787T>C

1 paper

NM_015450.3

p.F263I

c.787T>A