Varaico: Literature-Extracted Genetic Variants

Gene:PTTG1IP
Variant:p.R125delFs

PTTG1IP

28 papers

RefSeq Summary

This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression o...

Pfam Domains

PTTG1IP_Caa 136–166UCSCPTTG1IP C-terminal domain

Gene Aliases

HGNC Name

PTTG1 interacting protein

HGNC Previous Symbol

C21orf3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004339.4
p.R125delFs
c.375delC
Surrounding Variants
1 paper
NM_004339.4
p.R125delFs
c.373_374delCT
1 paper
NM_004339.4
p.R127W
c.379C>T
1 paper
NM_004339.4
p.R127Q
c.380G>A
1 paper
NM_004339.4
p.K128K
c.384G>A
1 paper
NM_004339.4
p.P129P
c.387G>A
3 papers
NM_004339.4
p.C121del1
c.361_362delGCA
1 paper
NM_004339.4
p.K128_D130delFs
c.383_389del7
1 paper
NM_004339.4
p.S132N
c.395G>A
1 paper
NM_004339.4
p.C119Y
c.356G>A
1 paper
NM_004339.4
p.E134G
c.401A>G
1 paper
NM_004339.4
p.K135delFs
c.404delT
1 paper
NM_004339.4
p.E139K
c.415G>A
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