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

4 papers

NM_015450.3

p.R273G

c.817C>G

Surrounding Variants

7 papers

NM_015450.3

p.R273W

c.817C>T

20 papers

NM_015450.3

p.R273L

c.818G>T

13 papers

NM_015450.3

p.R273Q

c.818G>A

9 papers

NM_015450.3

p.G272V

c.815G>T

1 paper

NM_015450.3

p.G272A

c.815G>C

1 paper

NM_015450.3

p.G272C

c.814G>T

10 papers

NM_015450.3

p.G274R

c.820G>C

10 papers

NM_015450.3

p.G274R

c.820G>A

3 papers

NM_015450.3

p.G272S

c.814G>A

1 paper

NM_015450.3

p.G274A

c.821G>C

2 papers

NM_015450.3

p.G274E

c.821G>A

2 papers

NM_015450.3

p.Y271*

c.813C>G