Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.Q278K

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.Q278K
c.832C>A
Surrounding Variants
2 papers
NM_001018111.3
p.Q274delFs
c.821delT
1 paper
NM_001018111.3
p.R275G
c.823A>G
1 paper
NM_001018111.3
p.Q282*
c.844C>T
1 paper
NM_001018111.3
p.M283V
c.847A>G
1 paper
NM_001018111.3
p.Q277_M283insFs
c.831_849dup19
2 papers
NM_001018111.3
p.P284L
c.851C>T
1 paper
NM_001018111.3
p.P284R
c.851C>G
1 paper
NM_001018111.3
p.S270L
c.809C>T
1 paper
NM_001018111.3
p.S270W
c.809C>G
1 paper
NM_001018111.3
p.A285A
c.855C>A
1 paper
NM_001018111.3
p.S270T
c.808T>A
1 paper
NM_001018111.3
p.S286G
c.856A>G
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