Varaico: Literature-Extracted Genetic Variants

TERF2

189 papers

RefSeq Summary

This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negat...

Pfam Domains

TRFaa 94–293UCSCTelomere repeat binding factor (TRF)

TERF2_RBMaa 318–358UCSCTelomeric repeat-binding factor 2 Rap1-binding motif

Myb_DNA-bindingaa 489–537UCSCMyb-like DNA-binding domain

Gene Aliases

HGNC Name

telomeric repeat binding factor 2

HGNC Previous Symbol

TRBF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005652.5

p.P14S

c.40C>T

Surrounding Variants

1 paper

NM_005652.5

p.G13G

c.39C>T

1 paper

NM_005652.5

p.G13C

c.37G>T

1 paper

NM_005652.5

p.P10insFs

c.29_30insA

1 paper

NM_005652.5

p.G9V

c.26G>T

1 paper

NM_005652.5

p.A8A

c.24G>T

1 paper

NM_005652.5

p.D19G

c.56A>G

1 paper

NM_005652.5

p.D19A

c.56A>C

1 paper

NM_005652.5

p.D19E

c.57C>G

1 paper

NM_005652.5

p.A8G

c.23C>G

1 paper

NM_005652.5

p.D19E

c.57C>A

1 paper

NM_005652.5

p.G6V

c.17G>T

1 paper

NM_005652.5

p.G6A

c.17G>C