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.H245R

c.734A>G

Surrounding Variants

1 paper

NM_015450.3

p.H245L

c.734A>T

1 paper

NM_015450.3

p.H245Y

c.733C>T

2 papers

NM_015450.3

p.T246S

c.736A>T

2 papers

NM_015450.3

p.T246S

c.737C>G

1 paper

NM_015450.3

p.T246insFs

c.736_737ins38

2 papers

NM_015450.3

p.L244F

c.730C>T

1 paper

NM_015450.3

p.S243I

c.728G>T

1 paper

NM_015450.3

p.S243N

c.728G>A

1 paper

NM_015450.3

p.S243C

c.727A>T

1 paper

NM_015450.3

p.L248P

c.743T>C

4 papers

NM_015450.3

p.Y242C

c.725A>G

2 papers

NM_015450.3

p.Y242H

c.724T>C