Varaico: Literature-Extracted Genetic Variants

Gene:PODXL2
Variant:p.Y522S

PODXL2

34 papers

RefSeq Summary

This gene is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmem...

Pfam Domains

CD34_antigenaa 390–605UCSCCD34/Podocalyxin family

Gene Aliases

HGNC Name

podocalyxin like 2

HGNC Alias Symbols

PODLX2; endoglycan; EG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015720.4
p.Y522S
c.1565A>C
Surrounding Variants
1 paper
NM_015720.4
p.A517E
c.1550C>A
1 paper
NM_015720.4
p.S496I
c.1487G>T
1 paper
NM_015720.4
p.Q493K
c.1477C>A
1 paper
NM_015720.4
p.E594K
c.1780G>A
1 paper
NM_015720.4
p.S437R
c.1311C>A
1 paper
NM_015720.4
p.S437R
c.1311C>G
1 paper
NM_015720.4
p.S437R
c.1309A>C
1 paper
NM_015720.4
p.R409W
c.1225C>T
1 paper
NM_015720.4
p.C402_E403Splc
c.1207-215G>C
1 paper
NM_015720.4
p.C380F
c.1139G>T
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