Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.D130H

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.D130H
c.388G>C
Surrounding Variants
1 paper
NM_001018111.3
p.D130G
c.389A>G
1 paper
NM_001018111.3
p.D130A
c.389A>C
1 paper
NM_001018111.3
p.D130E
c.390C>G
1 paper
NM_001018111.3
p.D130E
c.390C>A
1 paper
NM_001018111.3
p.T131I
c.392C>T
1 paper
NM_001018111.3
p.S128N
c.383G>A
1 paper
NM_001018111.3
p.T132S
c.394A>T
1 paper
NM_001018111.3
p.S128C
c.382A>T
1 paper
NM_001018111.3
p.T132A
c.394A>G
1 paper
NM_001018111.3
p.T132S
c.395C>G
1 paper
NM_001018111.3
p.T133A
c.397A>G
1 paper
NM_001018111.3
p.T126I
c.377C>T
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