Varaico: Literature-Extracted Genetic Variants

Gene:TERF2IP
Variant:p.K210*

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.K210*
c.628A>T
Surrounding Variants
1 paper
NM_018975.4
p.K210Q
c.628A>C
1 paper
NM_018975.4
p.K208N
c.624G>C
1 paper
NM_018975.4
p.S206Y
c.617C>A
1 paper
NM_018975.4
p.S205A
c.613T>G
1 paper
NM_018975.4
p.P204S
c.610C>T
1 paper
NM_018975.4
p.P217Q
c.650C>A
1 paper
NM_018975.4
p.A200T
c.598G>A
1 paper
NM_018975.4
p.A200delFs
c.599_600delCG
1 paper
NM_018975.4
p.L197P
c.590T>C
6 papers
NM_018975.4
p.Q191R
c.572A>G
1 paper
NM_018975.4
p.L185L
c.555C>T
1 paper
NM_018975.4
p.M167I
c.501G>A
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