Varaico: Literature-Extracted Genetic Variants

Gene:TERF2IP
Variant:p.R133Q

TERF2IP

171 papers

Pfam Domains

BRCT_2aa 19–100UCSCBRCT domain
Myb_Rap1aa 136–195UCSCRap1 Myb domain
Rap1_Caa 321–398UCSCTRF2-interacting telomeric protein/Rap1 - C terminal domain

Gene Aliases

HGNC Name

TERF2 interacting protein

HGNC Alias Symbol

RAP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_018975.4
p.R133Q
c.398G>A
Surrounding Variants
1 paper
NM_018975.4
p.F136L
c.408C>G
1 paper
NM_018975.4
p.P125P
c.375G>A
1 paper
NM_018975.4
p.P125T
c.373C>A
1 paper
NM_018975.4
p.E150G
c.449A>G
1 paper
NM_018975.4
p.D108N
c.322G>A
2 papers
NM_018975.4
p.A104P
c.310G>C
1 paper
NM_018975.4
p.G102D
c.305G>A
1 paper
NM_018975.4
p.R100delFs
c.299delG
1 paper
NM_018975.4
p.M167I
c.501G>A
1 paper
NM_018975.4
p.M167I
c.501G>C
1 paper
NM_018975.4
p.M167I
c.501G>T
1 paper
NM_018975.4
p.E97_A98delFs
c.290_293del4
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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."