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.Q359Q

c.1077A>G

Surrounding Variants

1 paper

NM_015450.3

p.Q359del1

c.1075_1077delTTG

7 papers

NM_015450.3

p.Q358fs

c.1072_1073fs

1 paper

NM_015450.3

p.R361C

c.1081C>T

1 paper

NM_015450.3

p.R361fs

c.1081_1082fs

2 papers

NM_015450.3

p.R361H

c.1082G>A

1 paper

NM_015450.3

p.Q358delins

c.1072delinsT

5 papers

NM_015450.3

p.P357insFs

c.1071dupT

1 paper

NM_015450.3

p.P357delFs

c.1071delA

2 papers

NM_015450.3

p.Q358fs

c.1072_1073fs

1 paper

NM_015450.3

p.P357_Q358insFs

c.1071_1072insA

2 papers

NM_015450.3

p.P357S

c.1069C>T

20 papers

NM_015450.3

p.R363*

c.1087C>T