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.H226L

c.677A>T

Surrounding Variants

1 paper

NM_015450.3

p.H226R

c.677A>G

1 paper

NM_015450.3

p.H226delins

c.676_678delinsAAC

2 papers

NM_015450.3

p.H226fs

c.676_677fs

1 paper

NM_015450.3

p.Y223_H226del0

c.669_677del9

2 papers

NM_015450.3

p.H226Y

c.676C>T

2 papers

NM_015450.3

p.H226N

c.676C>A

1 paper

NM_015450.3

p.V227A

c.680T>C

1 paper

NM_015450.3

p.D224G

c.671A>G

1 paper

NM_015450.3

p.D224A

c.671A>C

1 paper

NM_015450.3

p.D224H

c.670G>C

29 papers

NM_015450.3

p.D224N

c.670G>A

2 papers

NM_015450.3

p.V229fs

c.685_686fs