Varaico: Literature-Extracted Genetic Variants

SLC34A2

173 papers

RefSeq Summary

The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithia...

Pfam Domains

Na_Pi_cotransaa 110–230UCSCNa+/Pi-cotransporter

Na_Pi_cotransaa 374–576UCSCNa+/Pi-cotransporter

Gene Aliases

HGNC Name

solute carrier family 34 member 2

HGNC Alias Symbols

NAPI-3B; NaPi-2b; NPTIIb; NaPi2b; NAPI-IIb

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_006424.3

p.C350Splc

c.1048+1G>A

Surrounding Variants

1 paper

NM_006424.3

p.N340Y

c.1018A>T

1 paper

NM_006424.3

p.K339M

c.1016A>T

1 paper

NM_006424.3

p.W336*

c.1008G>A

1 paper

NM_006424.3

p.W336*

c.1007G>A

1 paper

NM_006424.3

p.N335Fs

c.1003delinsGAFs

1 paper

NM_006424.3

p.D331N

c.991G>A

2 papers

NM_006424.3

p.T330M

c.989C>T

1 paper

NM_006424.3

p.C328Y

c.983G>A

1 paper

NM_006424.3

p.L327F

c.979C>T

1 paper

NM_006424.3

p.S326F

c.977C>T

1 paper

NM_006424.3

p.P325H

c.974C>A

1 paper

NM_006424.3

p.S324F

c.971C>T