Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.L127delFs

SLC20A2

243 papers

RefSeq Summary

This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by ...

Pfam Domains

PHO4aa 24–637UCSCPhosphate transporter family

Gene Aliases

HGNC Name

solute carrier family 20 member 2

HGNC Previous Symbols

MLVAR; GLVR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001257180.2
p.L127delFs
c.380delA
Surrounding Variants
2 papers
NM_001257180.2
p.V128fs
c.382_383fs
1 paper
NM_001257180.2
p.V128D
c.383T>A
3 papers
NM_001257180.2
p.V128delFs
c.382delC
1 paper
NM_001257180.2
p.L127fs
c.379_380fs
1 paper
NM_001257180.2
p.G124_S126del3
c.370_377del9
1 paper
NM_001257180.2
p.G124V
c.371G>T
1 paper
NM_001257180.2
p.K133E
c.397A>G
5 papers
NM_001257180.2
p.S121C
c.362C>G
1 paper
NM_001257180.2
p.G120G
c.360T>C
3 papers
NM_001257180.2
p.G120R
c.358G>C
1 paper
NM_001257180.2
p.V119A
c.356T>C
1 paper
NM_001257180.2
p.W137*
c.410G>A
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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."