Varaico: Literature-Extracted Genetic Variants

Gene:CCNB1IP1
Variant:p.I124M

CCNB1IP1

41 papers

RefSeq Summary

HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004].

Pfam Domains

zf-RING_5aa 9–53UCSCzinc-RING finger domain

Gene Aliases

HGNC Name

cyclin B1 interacting protein 1

HGNC Alias Symbol

HEI10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021178.5
p.I124M
c.372A>G
Surrounding Variants
1 paper
NM_021178.5
p.K123N
c.369G>T
1 paper
NM_021178.5
p.K123N
c.369G>C
1 paper
NM_021178.5
p.K132R
c.395A>G
1 paper
NM_021178.5
p.S138C
c.413C>G
1 paper
NM_021178.5
p.Y106H
c.316T>C
1 paper
NM_021178.5
p.Y106fs
c.316_317fs
1 paper
NM_021178.5
p.L105insFs
c.314_315ins8
2 papers
NM_021178.5
p.R104H
c.311G>A
1 paper
NM_021178.5
p.M146L
c.436A>T
1 paper
NM_021178.5
p.M146L
c.436A>C
1 paper
NM_021178.5
p.V100L
c.298G>T
1 paper
NM_021178.5
p.E152K
c.454G>A
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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."