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

26 papers

NM_015450.3

p.Q94E

c.280C>G

Surrounding Variants

2 papers

NM_015450.3

p.Q94fs

c.280_281fs

1 paper

NM_015450.3

p.Q94*

c.280C>T

4 papers

NM_015450.3

p.Q94K

c.280C>A

16 papers

NM_015450.3

p.Q94R

c.281A>G

6 papers

NM_015450.3

p.Q94H

c.282G>T

6 papers

NM_015450.3

p.Q94H

c.282G>C

13 papers

NM_015450.3

p.G95C

c.283G>T

1 paper

NM_015450.3

p.G95S

c.283G>A

2 papers

NM_015450.3

p.Q94delFs

c.281_282delCT

3 papers

NM_015450.3

p.G95V

c.284G>T

1 paper

NM_015450.3

p.G95D

c.284G>A

1 paper

NM_015450.3

p.G95_I96insFs

c.285_286insCT