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.E443K

c.1327G>A

Surrounding Variants

1 paper

NM_005652.5

p.V435I

c.1303G>A

1 paper

NM_005652.5

p.Q423L

c.1268A>T

1 paper

NM_005652.5

p.L419F

c.1255C>T

2 papers

NM_005652.5

p.A417T

c.1249G>A

1 paper

NM_005652.5

p.D409V

c.1226A>T

1 paper

NM_005652.5

p.R403S

c.1209A>T

1 paper

NM_005652.5

p.M399T

c.1196T>C

1 paper

NM_005652.5

p.L392P

c.1175T>C

1 paper

NM_005652.5

p.D376G

c.1127A>G

1 paper

NM_005652.5

p.P363S

c.1087C>T

1 paper

NM_005652.5

p.L357insFs

c.1071dupT

1 paper

NM_005652.5

p.Q352insFs

c.1054dupC