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

1–12 of 88 variants

3 papers

NM_005652.5

p.T280_M281Splc

c.840+2T>C

3 papers

NM_005652.5

p.E498K

c.1492G>A

2 papers

NM_005652.5

p.M1T

c.2T>C

2 papers

NM_005652.5

p.K27M

c.80A>T

2 papers

NM_005652.5

p.S65C

c.193A>T

2 papers

NM_005652.5

p.Q231_K232Splc

c.693+9G>A

2 papers

NM_005652.5

p.R316Splc

c.947+27G>A

2 papers

NM_005652.5

p.A346G

c.1037C>G

2 papers

NM_005652.5

p.A417T

c.1249G>A

2 papers

NM_005652.5

p.K447Splc

c.1341-42T>C

1 paper

NM_005652.5

p.M1_A2insFs

c.3_4insT

1 paper

NM_005652.5

p.A2V

c.5C>T