Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.S601W

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
21 papers
NM_001257180.2
p.S601W
c.1802C>G
Surrounding Variants
16 papers
NM_001257180.2
p.S601L
c.1802C>T
2 papers
NM_001257180.2
p.S601P
c.1801T>C
1 paper
NM_001257180.2
p.S601T
c.1801T>A
1 paper
NM_001257180.2
p.G600V
c.1799G>T
2 papers
NM_001257180.2
p.A604P
c.1810G>C
1 paper
NM_001257180.2
p.K598_V599Splc
c.1795-1G>A
2 papers
NM_001257180.2
p.A604V
c.1811C>T
1 paper
NM_001257180.2
p.S610A
c.1828T>G
5 papers
NM_001257180.2
p.S610fs
c.1828_1829fs
1 paper
NM_001257180.2
p.S610fs
c.1828_1829fs
1 paper
NM_001257180.2
p.R611C
c.1831C>T
2 papers
NM_001257180.2
p.R611H
c.1832G>A
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