Varaico: Literature-Extracted Genetic Variants

Gene:TERF2IP
Variant:p.A387V

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.A387V
c.1160C>T
Surrounding Variants
1 paper
NM_018975.4
p.F385F
c.1155T>C
1 paper
NM_018975.4
p.K384K
c.1152A>G
1 paper
NM_018975.4
p.K384_F385delFs
c.1152_1153delAT
1 paper
NM_018975.4
p.K384fs
c.1150_1151fs
6 papers
NM_018975.4
p.R364*
c.1090C>T
1 paper
NM_018975.4
p.A348S
c.1042G>T
1 paper
NM_018975.4
p.N339fs
c.1015_1016fs
1 paper
NM_018975.4
p.K338R
c.1013A>G
1 paper
NM_018975.4
p.K338Q
c.1012A>C
6 papers
NM_018975.4
p.K324E
c.970A>G
1 paper
NM_018975.4
p.Q320*
c.958C>T
1 paper
NM_018975.4
p.I318M
c.954T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."