Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.R403*

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
3 papers
NM_001257180.2
p.R403*
c.1207C>T
Surrounding Variants
1 paper
NM_001257180.2
p.A404delFs
c.1212delA
1 paper
NM_001257180.2
p.A405V
c.1214C>T
1 paper
NM_001257180.2
p.A400T
c.1198G>A
2 papers
NM_001257180.2
p.A400fs
c.1198_1199fs
1 paper
NM_001257180.2
p.H399_A400insFs
c.1197_1198insA
1 paper
NM_001257180.2
p.D406D
c.1218C>T
5 papers
NM_001257180.2
p.H399P
c.1196A>C
1 paper
NM_001257180.2
p.S407*
c.1220C>G
1 paper
NM_001257180.2
p.S407*
c.1220C>A
1 paper
NM_001257180.2
p.S408*
c.1223C>A
1 paper
NM_001257180.2
p.L396insFs
c.1187dupT
1 paper
NM_001257180.2
p.A409V
c.1226C>T
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