Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.S42S

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.S42S
c.126T>A
Surrounding Variants
1 paper
NM_001018111.3
p.T38_S42delFs
c.112_124del13
1 paper
NM_001018111.3
p.N43_K44insFs
c.129_130insA
1 paper
NM_001018111.3
p.N43K
c.129C>A
1 paper
NM_001018111.3
p.S41*
c.122C>A
1 paper
NM_001018111.3
p.T39T
c.117G>T
1 paper
NM_001018111.3
p.T45T
c.135A>C
1 paper
NM_001018111.3
p.T39K
c.116C>A
1 paper
NM_001018111.3
p.T39A
c.115A>G
1 paper
NM_001018111.3
p.T38T
c.114T>C
1 paper
NM_001018111.3
p.A46A
c.138A>G
1 paper
NM_001018111.3
p.P47S
c.139C>T
1 paper
NM_001018111.3
p.P47fs
c.139_140fs
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