Varaico: Literature-Extracted Genetic Variants

Gene:TERF2IP
Variant:p.T44A

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.T44A
c.130A>G
Surrounding Variants
1 paper
NM_018975.4
p.I46T
c.137T>C
1 paper
NM_018975.4
p.L47_G50del4
c.139_149del12
1 paper
NM_018975.4
p.L47M
c.139C>A
1 paper
NM_018975.4
p.H48Y
c.142C>T
1 paper
NM_018975.4
p.P37fs
c.109_110fs
1 paper
NM_018975.4
p.S36G
c.106A>G
2 papers
NM_018975.4
p.V33G
c.98T>G
1 paper
NM_018975.4
p.R55P
c.164G>C
1 paper
NM_018975.4
p.Y32_V33ins0
c.94_99dup6
1 paper
NM_018975.4
p.G60R
c.178G>A
1 paper
NM_018975.4
p.G60R
c.178G>C
1 paper
NM_018975.4
p.D25E
c.75C>A
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