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

1–12 of 942 variants

30 papers

NM_015450.3

p.Y89C

c.266A>G

29 papers

NM_015450.3

p.D224N

c.670G>A

28 papers

NM_015450.3

p.S270N

c.809G>A

27 papers

NM_015450.3

p.R117C

c.349C>T

26 papers

NM_015450.3

p.Q94E

c.280C>G

25 papers

NM_015450.3

p.I78T

c.233T>C

23 papers

NM_015450.3

p.Q623H

c.1869G>T

23 papers

NM_015450.3

p.Q623H

c.1869G>C

20 papers

NM_015450.3

p.R273L

c.818G>T

20 papers

NM_015450.3

p.R363*

c.1087C>T

19 papers

NM_015450.3

p.Q376R

c.1127A>G

19 papers

NM_015450.3

p.A532P

c.1594G>C