Varaico: Literature-Extracted Genetic Variants

Gene:TERB2
Variant:p.H117fs

TERB2

28 papers

Pfam Domains

TERB2aa 2–206UCSCTelomere-associated protein TERB2

Gene Aliases

HGNC Name

telomere repeat binding bouquet formation protein 2

HGNC Previous Symbol

C15orf43

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152448.3
p.H117fs
c.349_350fs
Surrounding Variants
1 paper
NM_152448.3
p.T121_P122ins1
c.363_364insACA
1 paper
NM_152448.3
p.P122L
c.365C>T
1 paper
NM_152448.3
p.E124ins1
c.371_372insACA
1 paper
NM_152448.3
p.T127S
c.379A>T
1 paper
NM_152448.3
p.L134L
c.400C>T
1 paper
NM_152448.3
p.A135_T136del2
c.403_407del6
2 papers
NM_152448.3
p.S145N
c.434G>A
1 paper
NM_152448.3
p.K116_H117Splc
c.348+5G>C
1 paper
NM_152448.3
p.S103R
c.309T>A
1 paper
NM_152448.3
p.S103R
c.309T>G
1 paper
NM_152448.3
p.S103R
c.307A>C
4 papers
NM_152448.3
p.I101F
c.301A>T
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