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.D598Splc

c.1793-2A>G

Surrounding Variants

4 papers

NM_015450.3

p.D598N

c.1792G>A

6 papers

NM_015450.3

p.D598fs

c.1792_1793fs

1 paper

NM_015450.3

p.Y600F

c.1799A>T

3 papers

NM_015450.3

p.P601L

c.1802C>T

2 papers

NM_015450.3

p.E604K

c.1810G>A

1 paper

NM_015450.3

p.C605S

c.1813T>A

1 paper

NM_015450.3

p.C605S

c.1814G>C

1 paper

NM_015450.3

p.K608R

c.1823A>G

1 paper

NM_015450.3

p.Y610N

c.1828T>A

1 paper

NM_015450.3

p.N611H

c.1831A>C

2 papers

NM_015450.3

p.N611S

c.1832A>G

1 paper

NM_015450.3

p.V612A

c.1835T>C