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

4 papers

NM_015450.3

p.H266R

c.797A>G

Surrounding Variants

8 papers

NM_015450.3

p.H266L

c.797A>T

1 paper

NM_015450.3

p.H266P

c.797A>C

1 paper

NM_015450.3

p.H266Q

c.798T>G

1 paper

NM_015450.3

p.H266Q

c.798T>A

2 papers

NM_015450.3

p.H266Y

c.796C>T

2 papers

NM_015450.3

p.H266D

c.796C>G

1 paper

NM_015450.3

p.H266N

c.796C>A

2 papers

NM_015450.3

p.G267R

c.799G>C

2 papers

NM_015450.3

p.G267R

c.799G>A

2 papers

NM_015450.3

p.L265P

c.794T>C

1 paper

NM_015450.3

p.L265H

c.794T>A

1 paper

NM_015450.3

p.G267A

c.800G>C