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.Q376*

c.1126C>T

Surrounding Variants

19 papers

NM_015450.3

p.Q376R

c.1127A>G

1 paper

NM_015450.3

p.S377P

c.1129T>C

2 papers

NM_015450.3

p.S377F

c.1130C>T

1 paper

NM_015450.3

p.V378L

c.1132G>C

1 paper

NM_015450.3

p.L374V

c.1120C>G

1 paper

NM_015450.3

p.K379*

c.1135A>T

1 paper

NM_015450.3

p.R372G

c.1114A>G

1 paper

NM_015450.3

p.P371L

c.1112C>T

3 papers

NM_015450.3

p.P371T

c.1111C>A

1 paper

NM_015450.3

p.Y369_K370delFs

c.1106_1110del5

1 paper

NM_015450.3

p.C382R

c.1144T>C

2 papers

NM_015450.3

p.Y369delFs

c.1107delA