Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.L248F

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.L248F
c.742C>T
Surrounding Variants
1 paper
NM_001018111.3
p.G247V
c.740G>T
1 paper
NM_001018111.3
p.G247S
c.739G>A
1 paper
NM_001018111.3
p.E249D
c.747A>T
1 paper
NM_001018111.3
p.E249D
c.747A>C
1 paper
NM_001018111.3
p.A246T
c.736G>A
1 paper
NM_001018111.3
p.Q245H
c.735G>T
1 paper
NM_001018111.3
p.Q245H
c.735G>C
2 papers
NM_001018111.3
p.Q245R
c.734A>G
1 paper
NM_001018111.3
p.S244R
c.732C>G
1 paper
NM_001018111.3
p.S244R
c.732C>A
1 paper
NM_001018111.3
p.S244C
c.730A>T
2 papers
NM_001018111.3
p.S244G
c.730A>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."