Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.S385fs

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.S385fs
c.1153_1154fs
Surrounding Variants
1 paper
NM_001257180.2
p.N384_S385delFs
c.1152_1153delTG
1 paper
NM_001257180.2
p.S385delFs
c.1154delC
1 paper
NM_001257180.2
p.N384fs
c.1150_1151fs
9 papers
NM_001257180.2
p.Y386*
c.1158C>G
3 papers
NM_001257180.2
p.Y386insFs
c.1157_1158insA
7 papers
NM_001257180.2
p.Y386*
c.1158C>A
8 papers
NM_001257180.2
p.R382Q
c.1145G>A
2 papers
NM_001257180.2
p.R382*
c.1144C>T
2 papers
NM_001257180.2
p.L380delFs
c.1138delG
1 paper
NM_001257180.2
p.Y389*
c.1167C>A
2 papers
NM_001257180.2
p.L380fs
c.1138_1139fs
4 papers
NM_001257180.2
p.T390A
c.1168A>G
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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."