Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.N72K

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.N72K
c.216C>G
Surrounding Variants
1 paper
NM_001018111.3
p.N72K
c.216C>A
1 paper
NM_001018111.3
p.N72S
c.215A>G
1 paper
NM_001018111.3
p.A71V
c.212C>T
1 paper
NM_001018111.3
p.I74F
c.220A>T
2 papers
NM_001018111.3
p.A71T
c.211G>A
1 paper
NM_001018111.3
p.K70K
c.210G>A
2 papers
NM_001018111.3
p.K70R
c.209A>G
1 paper
NM_001018111.3
p.S69delFs
c.206delG
1 paper
NM_001018111.3
p.A76T
c.226G>A
1 paper
NM_001018111.3
p.A76V
c.227C>T
1 paper
NM_001018111.3
p.E73_A76del4
c.217_227del12
1 paper
NM_001018111.3
p.T68I
c.203C>T
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