Varaico: Literature-Extracted Genetic Variants

Gene:TPRX1
Variant:p.P387H

TPRX1

16 papers

RefSeq Summary

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as t...

Pfam Domains

Homeodomainaa 21–77UCSCHomeodomain

Gene Aliases

HGNC Name

tetrapeptide repeat homeobox 1

HGNC Alias Symbol

FLJ40321

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001397346.1
p.P387H
c.1160C>A
Surrounding Variants
1 paper
NM_001397346.1
p.P393L
c.1178C>T
1 paper
NM_001397346.1
p.P385_S396del12
c.1153_1187del36
1 paper
NM_001397346.1
p.P351T
c.1051C>A
1 paper
NM_001397346.1
p.I342I
c.1026C>A
1 paper
NM_001397346.1
p.I242_P243ins4
c.724_728ins12
1 paper
NM_001397346.1
p.P215_P219del0
c.644_655del12
1 paper
NM_001397346.1
p.P215_P219del5
c.643_656del15
2 papers
NM_001397346.1
p.G206_G210del0
c.618_629del12
1 paper
NM_001397346.1
p.G206_G210del5
c.616_629del15
1 paper
NM_001397346.1
p.P161L
c.482C>T
1 paper
NM_001397346.1
p.H129_W132del0
c.385_396del12
1 paper
NM_001397346.1
p.R72_A73delFs
c.215_219del5
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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."