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.V55L

c.163G>T

Surrounding Variants

1 paper

NM_015450.3

p.N54fs

c.160_161fs

1 paper

NM_015450.3

p.V55E

c.164T>A

1 paper

NM_015450.3

p.N54delFs

c.161delT

1 paper

NM_015450.3

p.T53I

c.158C>T

2 papers

NM_015450.3

p.T53A

c.157A>G

1 paper

NM_015450.3

p.L57R

c.170T>G

1 paper

NM_015450.3

p.T58S

c.172A>T

1 paper

NM_015450.3

p.T58A

c.172A>G

1 paper

NM_015450.3

p.T58I

c.173C>T

1 paper

NM_015450.3

p.T58S

c.173C>G

1 paper

NM_015450.3

p.D51G

c.152A>G

1 paper

NM_015450.3

p.V47_V50del4

c.139_149del12