Varaico: Literature-Extracted Genetic Variants

Gene:GPBP1

GPBP1

17 papers

RefSeq Summary

This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. Howeve...

Pfam Domains

Vasculinaa 375–471UCSCVascular protein family Vasculin-like 1

Gene Aliases

HGNC Name

GC-rich promoter binding protein 1

HGNC Alias Symbol

DKFZp761C169

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
1 paper
NM_022913.4
p.S18T
c.52T>A
1 paper
NM_022913.4
p.R59H
c.176G>A
1 paper
NM_022913.4
p.G62*
c.184G>T
1 paper
NM_022913.4
p.N71insFs
c.212dupA
1 paper
NM_022913.4
p.N71fs
c.211_212fs
1 paper
NM_022913.4
p.F102delFs
c.304delT
1 paper
NM_022913.4
p.H111R
c.332A>G
1 paper
NM_022913.4
p.K126del1
c.376_378delAAG
1 paper
NM_022913.4
p.R129C
c.385C>T
1 paper
NM_022913.4
p.R129H
c.386G>A
1 paper
NM_022913.4
p.Q131H
c.393G>T
1 paper
NM_022913.4
p.D136G
c.407A>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."