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.M560I

c.1680G>A

Surrounding Variants

1 paper

NM_015450.3

p.M560I

c.1680G>T

1 paper

NM_015450.3

p.M560I

c.1680G>C

1 paper

NM_015450.3

p.S562P

c.1684T>C

1 paper

NM_015450.3

p.S562Y

c.1685C>A

1 paper

NM_015450.3

p.L559I

c.1675C>A

1 paper

NM_015450.3

p.S562_D563Splc

c.1686+4A>G

1 paper

NM_015450.3

p.S562_D563Splc

c.1686+6T>G

1 paper

NM_015450.3

p.G553V

c.1658G>T

1 paper

NM_015450.3

p.G553E

c.1658G>A

1 paper

NM_015450.3

p.G551R

c.1651G>C

1 paper

NM_015450.3

p.G551R

c.1651G>A

1 paper

NM_015450.3

p.D550Y

c.1648G>T