Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.E294*

PODXL

947 papers

RefSeq Summary

This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithe...

Pfam Domains

CD34_antigenaa 355–558UCSCCD34/Podocalyxin family

Gene Aliases

HGNC Name

podocalyxin like

HGNC Alias Symbols

PCLP; Gp200; PODXL1; gp135

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001018111.3
p.E294*
c.880G>T
Surrounding Variants
2 papers
NM_001018111.3
p.Q293delFs
c.879delC
1 paper
NM_001018111.3
p.Q293_E294insC
c.877_881ins3
1 paper
NM_001018111.3
p.Q293_E294del2
c.877_881del6
3 papers
NM_001018111.3
p.T295I
c.884C>T
1 paper
NM_001018111.3
p.S292S
c.876C>T
1 paper
NM_001018111.3
p.S292insFs
c.874_875insA
1 paper
NM_001018111.3
p.V296M
c.886G>A
1 paper
NM_001018111.3
p.Q297*
c.889C>T
1 paper
NM_001018111.3
p.Q297R
c.890A>G
1 paper
NM_001018111.3
p.P298A
c.892C>G
1 paper
NM_001018111.3
p.T299delFs
c.896delG
1 paper
NM_001018111.3
p.P284_A285delFs
c.852_855del4
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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."