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.L278F

c.834G>C

Surrounding Variants

1 paper

NM_015450.3

p.L278F

c.834G>T

2 papers

NM_015450.3

p.E280K

c.838G>A

1 paper

NM_015450.3

p.R276S

c.828G>T

1 paper

NM_015450.3

p.R276S

c.828G>C

1 paper

NM_015450.3

p.R276K

c.827G>A

1 paper

NM_015450.3

p.R276G

c.826A>G

1 paper

NM_015450.3

p.N282S

c.845A>G

2 papers

NM_015450.3

p.N282N

c.846C>T

2 papers

NM_015450.3

p.S281_N282del2

c.841_845del6

1 paper

NM_015450.3

p.G274A

c.821G>C

2 papers

NM_015450.3

p.G274E

c.821G>A

10 papers

NM_015450.3

p.G274R

c.820G>C