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.S250fs

c.748_749fs

Surrounding Variants

1 paper

NM_015450.3

p.S250L

c.749C>T

4 papers

NM_015450.3

p.S250*

c.749C>G

4 papers

NM_015450.3

p.S250*

c.749C>A

1 paper

NM_015450.3

p.M251V

c.751A>G

4 papers

NM_015450.3

p.M251I

c.753G>T

4 papers

NM_015450.3

p.M251I

c.753G>C

4 papers

NM_015450.3

p.M251I

c.753G>A

1 paper

NM_015450.3

p.S250_M251delFs

c.749_752del4

1 paper

NM_015450.3

p.Q249*

c.745C>T

1 paper

NM_015450.3

p.L248P

c.743T>C

1 paper

NM_001042594.2

p.E123K

c.367G>A

2 papers

NM_015450.3

p.T246S

c.737C>G