Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.R553fs

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.R553fs
c.1657_1658fs
Surrounding Variants
2 papers
NM_001257180.2
p.G552delFs
c.1656delC
5 papers
NM_001257180.2
p.W551*
c.1653G>A
7 papers
NM_001257180.2
p.W551*
c.1652G>A
1 paper
NM_001257180.2
p.V555M
c.1663G>A
2 papers
NM_001257180.2
p.T558I
c.1673C>T
2 papers
NM_001257180.2
p.G547A
c.1640G>C
2 papers
NM_001257180.2
p.T546delFs
c.1637_1638delTG
1 paper
NM_001257180.2
p.T546R
c.1637C>G
1 paper
NM_001257180.2
p.T546fs
c.1636_1637fs
2 papers
NM_001257180.2
p.G543A
c.1628G>C
4 papers
NM_001257180.2
p.G540R
c.1618G>C
5 papers
NM_001257180.2
p.G540R
c.1618G>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."