Varaico: Literature-Extracted Genetic Variants

Gene:TERF1
Variant:p.R13L

TERF1

210 papers

RefSeq Summary

This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor o...

Pfam Domains

TRFaa 74–270UCSCTelomere repeat binding factor (TRF)
Myb_DNA-bindingaa 390–438UCSCMyb-like DNA-binding domain

Gene Aliases

HGNC Name

telomeric repeat binding factor 1

HGNC Previous Symbol

TRBF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017489.3
p.R13L
c.38G>T
Surrounding Variants
1 paper
NM_017489.3
p.G18A
c.53G>C
3 papers
NM_017489.3
p.R19delFs
c.55delA
1 paper
NM_017489.3
p.R19delFs
c.55_56delAG
1 paper
NM_017489.3
p.A8_A9del2
c.22_26del6
1 paper
NM_017489.3
p.A21G
c.62C>G
1 paper
NM_017489.3
p.D22N
c.64G>A
1 paper
NM_017489.3
p.E3K
c.7G>A
1 paper
NM_017489.3
p.E3*
c.7G>T
1 paper
NM_017489.3
p.A2A
c.6G>A
1 paper
NM_017489.3
p.A2A
c.6G>C
1 paper
NM_017489.3
p.A2V
c.5C>T
1 paper
NM_017489.3
p.M1T
c.2T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."