Varaico: Literature-Extracted Genetic Variants

Gene:TERF2IP
Variant:p.H16_S17delFs

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
1 paper
NM_018975.4
p.H16_S17delFs
c.47_50del4
Surrounding Variants
1 paper
NM_018975.4
p.S17F
c.50C>T
1 paper
NM_018975.4
p.L20delFs
c.60delG
1 paper
NM_018975.4
p.D10A
c.29A>C
2 papers
NM_018975.4
p.D10H
c.28G>C
1 paper
NM_018975.4
p.F21L
c.63C>G
1 paper
NM_018975.4
p.V22M
c.64G>A
1 paper
NM_018975.4
p.G8D
c.23G>A
1 paper
NM_018975.4
p.D24N
c.70G>A
1 paper
NM_018975.4
p.D25E
c.75C>A
1 paper
NM_018975.4
p.D25E
c.75C>G
4 papers
NM_018975.4
p.M5I
c.15G>A
4 papers
NM_018975.4
p.M5I
c.15G>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."