Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.E35A

ALPL

761 papers

RefSeq Summary

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kid...

Pfam Domains

Alk_phosphataseaa 51–490UCSCAlkaline phosphatase

Gene Aliases

HGNC Name

alkaline phosphatase, biomineralization associated

HGNC Previous Symbol

HOPS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000478.6
p.E35A
c.104A>C
Surrounding Variants
5 papers
NM_000478.6
p.T36P
c.106A>C
1 paper
NM_000478.6
p.Q34H
c.102A>T
1 paper
NM_000478.6
p.Q34_E35delFs
c.102_103delAG
1 paper
NM_000478.6
p.T36I
c.107C>T
1 paper
NM_000478.6
p.A33G
c.98C>G
28 papers
NM_000478.6
p.A33V
c.98C>T
3 papers
NM_000478.6
p.L37P
c.110T>C
1 paper
NM_000478.6
p.K38_Y39delFs
c.113_116del4
1 paper
NM_000478.6
p.A33fs
c.97_98fs
1 paper
NM_000478.6
p.Q32_A33delFs
c.96_97delAG
1 paper
NM_000478.6
p.K38K
c.114A>G
3 papers
NM_000478.6
p.K38N
c.114A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."