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.R240*

c.718A>T

Surrounding Variants

1 paper

NM_015450.3

p.L239_R240delFs

c.717_720del4

2 papers

NM_015450.3

p.Y242H

c.724T>C

4 papers

NM_015450.3

p.Y242C

c.725A>G

1 paper

NM_015450.3

p.S237delFs

c.709delT

1 paper

NM_015450.3

p.S237fs

c.709_710fs

1 paper

NM_015450.3

p.S243C

c.727A>T

1 paper

NM_015450.3

p.S243I

c.728G>T

1 paper

NM_015450.3

p.S243N

c.728G>A

1 paper

NM_015450.3

p.G236delFs

c.707delC

2 papers

NM_015450.3

p.L244F

c.730C>T

1 paper

NM_015450.3

p.G236fs

c.706_707fs

1 paper

NM_015450.3

p.V235fs

c.703_704fs