Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.T180S

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.T180S
c.539C>G
Surrounding Variants
1 paper
NM_001018111.3
p.T180S
c.538A>T
1 paper
NM_001018111.3
p.T180A
c.538A>G
2 papers
NM_001018111.3
p.T179T
c.537G>A
1 paper
NM_001018111.3
p.T179S
c.535A>T
1 paper
NM_001018111.3
p.A175A
c.525A>C
5 papers
NM_001018111.3
p.P189S
c.565C>T
1 paper
NM_001018111.3
p.R190*
c.568C>T
1 paper
NM_001018111.3
p.D169A
c.506A>C
1 paper
NM_001018111.3
p.S165_T167del3
c.493_500del9
1 paper
NM_001018111.3
p.T193P
c.577A>C
1 paper
NM_001018111.3
p.T167S
c.500C>G
1 paper
NM_001018111.3
p.T167A
c.499A>G
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