Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.I49_L50delFs

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.I49_L50delFs
c.146_150del5
Surrounding Variants
6 papers
NM_001257180.2
p.A51V
c.152C>T
3 papers
NM_001257180.2
p.L50*
c.149T>G
2 papers
NM_001257180.2
p.L50*
c.149T>A
1 paper
NM_001257180.2
p.I49fs
c.145_146fs
1 paper
NM_001257180.2
p.A47G
c.140C>G
1 paper
NM_001257180.2
p.E55Q
c.163G>C
2 papers
NM_001257180.2
p.E55K
c.163G>A
1 paper
NM_001257180.2
p.G58G
c.174C>G
10 papers
NM_001257180.2
p.V42del1
c.124_125delCAC
1 paper
NM_001257180.2
p.V60L
c.178G>C
1 paper
NM_001257180.2
p.V41delFs
c.122_123delCA
1 paper
NM_001257180.2
p.V41M
c.121G>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."