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

2 papers

NM_015450.3

p.R117S

c.349C>A

Surrounding Variants

27 papers

NM_015450.3

p.R117C

c.349C>T

1 paper

NM_015450.3

p.P116_R117delins

c.348_349delinsGT

5 papers

NM_015450.3

p.R117H

c.350G>A

6 papers

NM_015450.3

p.P116L

c.347C>T

1 paper

NM_015450.3

p.P116S

c.346C>T

1 paper

NM_015450.3

p.P116T

c.346C>A

1 paper

NM_015450.3

p.T118A

c.352A>G

1 paper

NM_015450.3

p.T118I

c.353C>T

1 paper

NM_015450.3

p.I115T

c.344T>C

1 paper

NM_015450.3

p.I115fs

c.343_344fs

1 paper

NM_015450.3

p.S119L

c.356C>T

2 papers

NM_015450.3

p.S119*

c.356C>G