Varaico: Literature-Extracted Genetic Variants

Gene:TERB2
Variant:p.*221Y

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.*221Y
c.663G>T
Surrounding Variants
1 paper
NM_152448.3
p.K220N
c.660A>T
1 paper
NM_152448.3
p.I213M
c.639A>G
1 paper
NM_152448.3
p.M210T
c.629T>C
1 paper
NM_152448.3
p.G198R
c.592G>A
1 paper
NM_152448.3
p.G198R
c.592G>C
1 paper
NM_152448.3
p.L189P
c.566T>C
2 papers
NM_152448.3
p.E188K
c.562G>A
1 paper
NM_152448.3
p.G187W
c.559G>T
3 papers
NM_152448.3
p.K183_K184delFs
c.547_551del5
3 papers
NM_152448.3
p.M182fs
c.544_545fs
4 papers
NM_152448.3
p.M182insFs
c.544dupA
1 paper
NM_152448.3
p.I177V
c.529A>G
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