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

19 papers

NM_015450.3

p.A532P

c.1594G>C

Surrounding Variants

3 papers

NM_015450.3

p.I535F

c.1603A>T

1 paper

NM_015450.3

p.L538V

c.1612C>G

1 paper

NM_015450.3

p.L538R

c.1613T>G

5 papers

NM_015450.3

p.Q539H

c.1617A>T

5 papers

NM_015450.3

p.Q539H

c.1617A>C

1 paper

NM_015450.3

p.V543A

c.1628T>C

1 paper

NM_015450.3

p.F546L

c.1636T>C

1 paper

NM_015450.3

p.F546L

c.1638T>G

1 paper

NM_015450.3

p.F546L

c.1638T>A

1 paper

NM_015450.3

p.D549N

c.1645G>A

1 paper

NM_015450.3

p.D550Y

c.1648G>T

1 paper

NM_015450.3

p.D550N

c.1648G>A