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.S99P

c.295T>C

Surrounding Variants

3 papers

NM_015450.3

p.G100D

c.299G>A

1 paper

NM_015450.3

p.T97I

c.290C>T

1 paper

NM_015450.3

p.F101V

c.301T>G

2 papers

NM_015450.3

p.F101I

c.301T>A

4 papers

NM_015450.3

p.T97P

c.289A>C

1 paper

NM_015450.3

p.I96fs

c.286_287fs

1 paper

NM_015450.3

p.A102P

c.304G>C

1 paper

NM_015450.3

p.G95_I96insFs

c.285_286insCT

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.A102delFs

c.306delT

13 papers

NM_015450.3

p.G95C

c.283G>T