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.A68A

c.204C>G

Surrounding Variants

2 papers

NM_015450.3

p.L69F

c.205C>T

1 paper

NM_015450.3

p.L69R

c.206T>G

1 paper

NM_015450.3

p.A68S

c.202G>T

3 papers

NM_015450.3

p.P70S

c.208C>T

2 papers

NM_015450.3

p.E67V

c.200A>T

1 paper

NM_015450.3

p.P70L

c.209C>T

1 paper

NM_015450.3

p.Y66fs

c.196_197fs

5 papers

NM_015450.3

p.Y66*

c.198T>G

5 papers

NM_015450.3

p.Y66*

c.198T>A

1 paper

NM_015450.3

p.I71V

c.211A>G

1 paper

NM_015450.3

p.Y66C

c.197A>G

1 paper

NM_015450.3

p.Y66insFs

c.196dupT