Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.P331delFs

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.P331delFs
c.991delG
Surrounding Variants
1 paper
NM_001018111.3
p.P333L
c.998C>T
1 paper
NM_001018111.3
p.V335insFs
c.1004_1005insA
1 paper
NM_001018111.3
p.V335_A336insFs
c.1005_1006insA
1 paper
NM_001018111.3
p.A336G
c.1007C>G
1 paper
NM_005397.4
p.R294Q
c.881G>A
3 papers
NM_001018111.3
p.R326*
c.976C>T
1 paper
NM_001018111.3
p.H325N
c.973C>A
1 paper
NM_001018111.3
p.E338D
c.1014G>C
1 paper
NM_001018111.3
p.S339G
c.1015A>G
3 papers
NM_001018111.3
p.W341*
c.1022G>A
3 papers
NM_001018111.3
p.W341*
c.1023G>A
1 paper
NM_001018111.3
p.A320S
c.958G>T
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