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.C621*

c.1863C>A

Surrounding Variants

1 paper

NM_015450.3

p.C621Y

c.1862G>A

23 papers

NM_015450.3

p.Q623H

c.1869G>T

23 papers

NM_015450.3

p.Q623H

c.1869G>C

1 paper

NM_015450.3

p.I624V

c.1870A>G

2 papers

NM_015450.3

p.Q619*

c.1855C>T

1 paper

NM_015450.3

p.I624M

c.1872T>G

11 papers

NM_015450.3

p.D617_N618delFs

c.1851_1852delTA

6 papers

NM_015450.3

p.D617fs

c.1849_1850fs

5 papers

NM_015450.3

p.D617E

c.1851T>G

5 papers

NM_015450.3

p.D617E

c.1851T>A

10 papers

NM_015450.3

p.D617fs

c.1849_1850fs

1 paper

NM_015450.3

p.T616A

c.1846A>G