Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.L428_R429delFs

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.L428_R429delFs
c.1284_1287del4
Surrounding Variants
1 paper
NM_001257180.2
p.R427_Y430del4
c.1279_1289del12
1 paper
NM_001257180.2
p.Y433S
c.1298A>C
7 papers
NM_001257180.2
p.S434W
c.1301C>G
1 paper
NM_001257180.2
p.S424insFs
c.1271_1272ins8
1 paper
NM_001257180.2
p.V421delFs
c.1261delC
1 paper
NM_001257180.2
p.G418_D419delFs
c.1253_1256del4
1 paper
NM_001257180.2
p.V417_G418insFs
c.1251_1252ins7
1 paper
NM_001257180.2
p.A443V
c.1328C>T
1 paper
NM_001257180.2
p.E444fs
c.1330_1331fs
1 paper
NM_001257180.2
p.S413_K415delFs
c.1237_1243del7
1 paper
NM_001257180.2
p.E444delFs
c.1330delC
1 paper
NM_001257180.2
p.I445I
c.1335C>T
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