Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.S39delFs

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.S39delFs
c.115delA
Surrounding Variants
1 paper
NM_001257180.2
p.S39delFs
c.117delA
1 paper
NM_001257180.2
p.V41M
c.121G>A
1 paper
NM_001257180.2
p.V41fs
c.121_122fs
1 paper
NM_001257180.2
p.V41delFs
c.122_123delCA
10 papers
NM_001257180.2
p.V42del1
c.124_125delCAC
1 paper
NM_001257180.2
p.A47G
c.140C>G
1 paper
NM_001257180.2
p.N31I
c.92A>T
1 paper
NM_001257180.2
p.I49fs
c.145_146fs
1 paper
NM_001257180.2
p.D28E
c.84T>G
1 paper
NM_001257180.2
p.D28E
c.84T>A
3 papers
NM_001257180.2
p.L50*
c.149T>G
2 papers
NM_001257180.2
p.L50*
c.149T>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."