Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.E575K

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
18 papers
NM_001257180.2
p.E575K
c.1723G>A
Surrounding Variants
1 paper
NM_001257180.2
p.E575*
c.1723G>T
1 paper
NM_001257180.2
p.E575Q
c.1723G>C
1 paper
NM_001257180.2
p.T573M
c.1718C>T
11 papers
NM_001257180.2
p.G571S
c.1711G>A
6 papers
NM_001257180.2
p.A585T
c.1753G>A
1 paper
NM_001257180.2
p.V583_I584del2
c.1747_1751del6
4 papers
NM_001257180.2
p.N587fs
c.1759_1760fs
1 paper
NM_001257180.2
p.I588V
c.1762A>G
3 papers
NM_001257180.2
p.G589R
c.1765G>C
4 papers
NM_001257180.2
p.G589R
c.1765G>A
2 papers
NM_001257180.2
p.A585_L590delFs
c.1755_1768del14
15 papers
NM_001257180.2
p.T595M
c.1784C>T
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