Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.R512C

SLC34A1

225 papers

Pfam Domains

Na_Pi_cotransaa 113–230UCSCNa+/Pi-cotransporter
Na_Pi_cotransaa 361–499UCSCNa+/Pi-cotransporter

Gene Aliases

HGNC Name

solute carrier family 34 member 1

HGNC Previous Symbol

NPT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_003052.5
p.R512C
c.1534C>T
Surrounding Variants
4 papers
NM_003052.5
p.R512H
c.1535G>A
1 paper
NM_003052.5
p.R507H
c.1520G>A
1 paper
NM_003052.5
p.A503V
c.1508C>T
1 paper
NM_003052.5
p.L524fs
c.1570_1571fs
1 paper
NM_003052.5
p.L524insFs
c.1571_1572insC
2 papers
NM_003052.5
p.P527del1
c.1579_1581delCCC
1 paper
NM_003052.5
p.P527L
c.1580C>T
8 papers
NM_003052.5
p.R495H
c.1484G>A
4 papers
NM_003052.5
p.R495C
c.1483C>T
1 paper
NM_003052.5
p.I533N
c.1598T>A
1 paper
NM_003052.5
p.P490L
c.1469C>T
1 paper
NM_003052.5
p.S534F
c.1601C>T
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