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

2 papers

NM_015450.3

p.I336_L337del1

c.1007_1009delGTA

Surrounding Variants

1 paper

NM_015450.3

p.I336delFs

c.1008delT

1 paper

NM_015450.3

p.Q341R

c.1022A>G

1 paper

NM_015450.3

p.I336Splc

c.1007-8C>A

1 paper

NM_015450.3

p.L343L

c.1027T>C

4 papers

NM_015450.3

p.L343F

c.1029G>T

4 papers

NM_015450.3

p.L343F

c.1029G>C

7 papers

NM_015450.3

p.E344*

c.1030G>T

1 paper

NM_015450.3

p.R345W

c.1033A>T

1 paper

NM_015450.3

p.R345K

c.1034G>A

2 papers

NM_015450.3

p.C349fs

c.1045_1046fs

1 paper

NM_015450.3

p.C349Y

c.1046G>A

1 paper

NM_015450.3

p.L352W

c.1055T>G