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

2 papers

NM_005652.5

p.K447Splc

c.1341-42T>C

Surrounding Variants

1 paper

NM_005652.5

p.P449L

c.1346C>T

1 paper

NM_005652.5

p.N457K

c.1371T>G

1 paper

NM_005652.5

p.W465*

c.1394G>A

1 paper

NM_005652.5

p.W465*

c.1395G>A

1 paper

NM_005652.5

p.Q475R

c.1424A>G

1 paper

NM_005652.5

p.A476Splc

c.1426+1G>A

1 paper

NM_005652.5

p.A477V

c.1430C>T

1 paper

NM_005652.5

p.D479A

c.1436A>C

1 paper

NM_005652.5

p.D481G

c.1442A>G

1 paper

NM_005652.5

p.K489E

c.1465A>G

3 papers

NM_005652.5

p.E498K

c.1492G>A

1 paper

NM_005652.5

p.G503R

c.1507G>C