Varaico: Literature-Extracted Genetic Variants

Gene:ALPG
Variant:p.K250E

ALPG

117 papers

RefSeq Summary

There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound gly...

Pfam Domains

Alk_phosphataseaa 52–487UCSCAlkaline phosphatase

Gene Aliases

HGNC Name

alkaline phosphatase, germ cell

HGNC Previous Symbol

ALPPL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031313.3
p.K250E
c.748A>G
Surrounding Variants
4 papers
NM_031313.3
p.H260R
c.779A>G
1 paper
NM_031313.3
p.Q261_G262Splc
c.783+2T>G
1 paper
NM_031313.3
p.E235E
c.705G>A
3 papers
NM_031313.3
p.G230G
c.690G>A
7 papers
NM_031313.3
p.P228R
c.683C>G
1 paper
NM_031313.3
p.K224*
c.670A>T
1 paper
NM_031313.3
p.R223*
c.667C>T
1 paper
NM_031313.3
p.V266M
c.796G>A
1 paper
NM_031313.3
p.L272F
c.814C>T
4 papers
NM_031313.3
p.L273M
c.817C>A
2 papers
NM_031313.3
p.P279L
c.836C>T
1 paper
NM_031313.3
p.M285L
c.853A>C
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