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.T109P

c.325A>C

Surrounding Variants

1 paper

NM_015450.3

p.G108V

c.323G>T

1 paper

NM_015450.3

p.G108A

c.323G>C

3 papers

NM_015450.3

p.G108E

c.323G>A

1 paper

NM_015450.3

p.G108delins

c.322_323delinsAA

1 paper

NM_015450.3

p.G108R

c.322G>C

3 papers

NM_015450.3

p.G108R

c.322G>A

1 paper

NM_015450.3

p.E107*

c.319G>T

1 paper

NM_015450.3

p.F106L

c.318T>G

1 paper

NM_015450.3

p.F106L

c.318T>A

1 paper

NM_015450.3

p.F106L

c.316T>C

1 paper

NM_015450.3

p.A112V

c.335C>T

7 papers

NM_015450.3

p.T105M

c.314C>T