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.V47E

c.140T>A

Surrounding Variants

1 paper

NM_015450.3

p.V47I

c.139G>A

1 paper

NM_015450.3

p.V47_T48insFs

c.141_142insG

5 papers

NM_015450.3

p.I49fs

c.145_146fs

3 papers

NM_015450.3

p.I49T

c.146T>C

2 papers

NM_015450.3

p.S45L

c.134C>T

3 papers

NM_015450.3

p.I49delFs

c.147delA

1 paper

NM_015450.3

p.C44S

c.131G>C

1 paper

NM_015450.3

p.C44R

c.130T>C

1 paper

NM_015450.3

p.C44S

c.130T>A

1 paper

NM_015450.3

p.V50V

c.150G>T

1 paper

NM_015450.3

p.V50delFs

c.149_150delCA

1 paper

NM_015450.3

p.D51G

c.152A>G