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.N75S

c.224A>G

Surrounding Variants

2 papers

NM_015450.3

p.N75fs

c.223_224fs

2 papers

NM_015450.3

p.G76R

c.226G>C

2 papers

NM_015450.3

p.G76R

c.226G>A

2 papers

NM_015450.3

p.G76V

c.227G>T

1 paper

NM_015450.3

p.G76E

c.227G>A

1 paper

NM_015450.3

p.K74I

c.221A>T

1 paper

NM_015450.3

p.K74*

c.220A>T

1 paper

NM_015450.3

p.K74E

c.220A>G

1 paper

NM_015450.3

p.Y73_K74insFs

c.219_220insA

1 paper

NM_015450.3

p.Y73*

c.219T>G

1 paper

NM_015450.3

p.Y73*

c.219T>A

1 paper

NM_015450.3

p.D77G

c.230A>G