Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.H208Q

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.H208Q
c.624T>G
Surrounding Variants
1 paper
NM_001018111.3
p.H208Q
c.624T>A
1 paper
NM_001018111.3
p.L209F
c.625C>T
1 paper
NM_001018111.3
p.G205_H208ins1
c.614_622dup9
1 paper
NM_001018111.3
p.D207N
c.619G>A
1 paper
NM_001018111.3
p.S213A
c.637T>G
1 paper
NM_001018111.3
p.S204A
c.610T>G
1 paper
NM_001018111.3
p.S214R
c.640A>C
1 paper
NM_001018111.3
p.S214R
c.642C>G
1 paper
NM_001018111.3
p.S214R
c.642C>A
1 paper
NM_001018111.3
p.T202K
c.605C>A
1 paper
NM_001018111.3
p.A220T
c.658G>A
4 papers
NM_001018111.3
p.T195M
c.584C>T
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