Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.L20delFs

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.L20delFs
c.60delC
Surrounding Variants
1 paper
NM_001018111.3
p.P21A
c.61C>G
1 paper
NM_001018111.3
p.S22A
c.64T>G
2 papers
NM_001018111.3
p.S22P
c.64T>C
1 paper
NM_001018111.3
p.L19Q
c.56T>A
1 paper
NM_001018111.3
p.S22S
c.66G>A
1 paper
NM_001018111.3
p.S23*
c.68C>A
1 paper
NM_001018111.3
p.S23S
c.69G>C
2 papers
NM_001018111.3
p.P18S
c.52C>T
1 paper
NM_001018111.3
p.P24S
c.70C>T
1 paper
NM_001018111.3
p.P17insFs
c.50dupC
1 paper
NM_001018111.3
p.P24L
c.71C>T
1 paper
NM_001018111.3
p.P24R
c.71C>G
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