Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.H241R

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
7 papers
NM_001018111.3
p.H241R
c.722A>G
Surrounding Variants
1 paper
NM_001018111.3
p.H241P
c.722A>C
1 paper
NM_001018111.3
p.H241Y
c.721C>T
2 papers
NM_001018111.3
p.H242Y
c.724C>T
1 paper
NM_001018111.3
p.H242R
c.725A>G
1 paper
NM_001018111.3
p.V239E
c.716T>A
1 paper
NM_001018111.3
p.V239M
c.715G>A
1 paper
NM_001018111.3
p.V243_S244insFs
c.729_730insTT
1 paper
NM_001018111.3
p.S244C
c.730A>T
2 papers
NM_001018111.3
p.S244G
c.730A>G
1 paper
NM_001018111.3
p.T238T
c.714A>G
1 paper
NM_001018111.3
p.S244R
c.730A>C
1 paper
NM_001018111.3
p.S244R
c.732C>G
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