Varaico: Literature-Extracted Genetic Variants

Gene:TERF2IP
Variant:p.E304del1

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
3 papers
NM_018975.4
p.E304del1
c.910_912delGAA
Surrounding Variants
1 paper
NM_018975.4
p.E298G
c.893A>G
1 paper
NM_018975.4
p.E297D
c.891G>C
1 paper
NM_018975.4
p.E297D
c.891G>T
1 paper
NM_018975.4
p.K305I
c.914A>T
1 paper
NM_018975.4
p.S307A
c.919T>G
1 paper
NM_018975.4
p.D290_T293del4
c.868_878del12
1 paper
NM_018975.4
p.Q308*
c.922C>T
1 paper
NM_018975.4
p.P287P
c.861T>A
1 paper
NM_018975.4
p.P285S
c.853C>T
1 paper
NM_018975.4
p.D281H
c.841G>C
1 paper
NM_018975.4
p.I318L
c.952A>C
1 paper
NM_018975.4
p.I318M
c.954T>G
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