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.F81I

c.241T>A

Surrounding Variants

5 papers

NM_015450.3

p.R80H

c.239G>A

7 papers

NM_015450.3

p.R80C

c.238C>T

1 paper

NM_015450.3

p.H82Y

c.244C>T

1 paper

NM_015450.3

p.V79F

c.235G>T

1 paper

NM_015450.3

p.R83G

c.247A>G

2 papers

NM_015450.3

p.R83M

c.248G>T

25 papers

NM_015450.3

p.I78T

c.233T>C

4 papers

NM_015450.3

p.L84L

c.250C>T

1 paper

NM_015450.3

p.I78V

c.232A>G

1 paper

NM_015450.3

p.I78L

c.232A>C

1 paper

NM_015450.3

p.L84R

c.251T>G

1 paper

NM_015450.3

p.L84Q

c.251T>A