Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.E482K

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
2 papers
NM_001257180.2
p.E482K
c.1444G>A
Surrounding Variants
1 paper
NM_001257180.2
p.V483A
c.1448T>C
2 papers
NM_001257180.2
p.A480T
c.1438G>A
2 papers
NM_001257180.2
p.E476*
c.1426G>T
2 papers
NM_001257180.2
p.H488R
c.1463A>G
1 paper
NM_001257180.2
p.K475Q
c.1423A>C
2 papers
NM_001257180.2
p.E474D
c.1422G>T
2 papers
NM_001257180.2
p.E474D
c.1422G>C
1 paper
NM_001257180.2
p.Q491*
c.1471C>T
1 paper
NM_001257180.2
p.Q491R
c.1472A>G
6 papers
NM_001257180.2
p.P470delFs
c.1409delG
1 paper
NM_001257180.2
p.P470L
c.1409C>T
7 papers
NM_001257180.2
p.L490_L493del0
c.1470_1478del9
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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."