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.M43L

c.127A>T

Surrounding Variants

1 paper

NM_005652.5

p.G46A

c.137G>C

1 paper

NM_005652.5

p.S50C

c.148A>T

1 paper

NM_005652.5

p.P29L

c.86C>T

2 papers

NM_005652.5

p.K27M

c.80A>T

1 paper

NM_005652.5

p.P25L

c.74C>T

1 paper

NM_005652.5

p.S62A

c.184T>G

1 paper

NM_005652.5

p.S62fs

c.184_185fs

1 paper

NM_005652.5

p.S23A

c.67T>G

1 paper

NM_005652.5

p.A22T

c.64G>A

2 papers

NM_005652.5

p.S65C

c.193A>T

1 paper

NM_005652.5

p.D19E

c.57C>G

1 paper

NM_005652.5

p.D19E

c.57C>A