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.K90N

c.270A>T

Surrounding Variants

1 paper

NM_015450.3

p.K90N

c.270A>C

1 paper

NM_015450.3

p.K90I

c.269A>T

1 paper

NM_015450.3

p.K91M

c.272A>T

18 papers

NM_015450.3

p.K90E

c.268A>G

3 papers

NM_015450.3

p.K90Q

c.268A>C

1 paper

NM_015450.3

p.Y89*

c.267T>G

1 paper

NM_015450.3

p.Y89*

c.267T>A

1 paper

NM_015450.3

p.K91fs

c.271_272fs

1 paper

NM_015450.3

p.Y89_K91delins

c.265_273delinsAATCTT

1 paper

NM_015450.3

p.Y89_K91delins

c.265_273delinsAATCCT

1 paper

NM_015450.3

p.Y89_K91Fs

c.265_273delinsAATCFs

1 paper

NM_015450.3

p.E92*

c.274G>T