Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.V382D

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.V382D
c.1145T>A
Surrounding Variants
1 paper
NM_000478.6
p.F383_T384insFs
c.1147_1150dup4
21 papers
NM_000478.6
p.V382I
c.1144G>A
1 paper
NM_000478.6
p.V382L
c.1144G>C
2 papers
NM_000478.6
p.F383_T384insG
c.1147_1151ins3
10 papers
NM_000478.6
p.H381R
c.1142A>G
1 paper
NM_000478.6
p.T384P
c.1150A>C
1 paper
NM_000478.6
p.T384fs
c.1150_1151fs
1 paper
NM_000478.6
p.T384K
c.1151C>A
1 paper
NM_000478.6
p.F385V
c.1153T>G
3 papers
NM_000478.6
p.H379N
c.1135C>A
1 paper
NM_000478.6
p.H379Y
c.1135C>T
23 papers
NM_000478.6
p.F385F
c.1155T>C
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