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

1 paper

NM_006424.3

p.C322G

c.964T>G

Surrounding Variants

1 paper

NM_006424.3

p.T323P

c.967A>C

1 paper

NM_006424.3

p.A320D

c.959C>A

1 paper

NM_006424.3

p.S324F

c.971C>T

1 paper

NM_006424.3

p.A320delFs

c.958delG

1 paper

NM_006424.3

p.P325H

c.974C>A

1 paper

NM_006424.3

p.S318W

c.953C>G

1 paper

NM_006424.3

p.S318L

c.953C>T

1 paper

NM_006424.3

p.S318fs

c.952_953fs

1 paper

NM_006424.3

p.S326F

c.977C>T

1 paper

NM_006424.3

p.P317L

c.950C>T

1 paper

NM_006424.3

p.P317S

c.949C>T

1 paper

NM_006424.3

p.L327F

c.979C>T