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.L61V

c.181C>G

Surrounding Variants

2 papers

NM_015450.3

p.L60R

c.179T>G

1 paper

NM_015450.3

p.L60Q

c.179T>A

4 papers

NM_015450.3

p.F62V

c.184T>G

2 papers

NM_015450.3

p.F62L

c.184T>C

2 papers

NM_015450.3

p.F62I

c.184T>A

1 paper

NM_015450.3

p.L60M

c.178C>A

2 papers

NM_015450.3

p.F62S

c.185T>C

1 paper

NM_015450.3

p.F62Y

c.185T>A

2 papers

NM_015450.3

p.F62L

c.186T>G

2 papers

NM_015450.3

p.F62L

c.186T>A

1 paper

NM_015450.3

p.C59F

c.176G>T

3 papers

NM_015450.3

p.C59Y

c.176G>A