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.T468A

c.1402A>G

Surrounding Variants

1 paper

NM_006424.3

p.T468S

c.1402A>T

1 paper

NM_006424.3

p.T468S

c.1403C>G

1 paper

NM_006424.3

p.A469T

c.1405G>A

6 papers

NM_006424.3

p.T468del1

c.1402_1404delACC

5 papers

NM_006424.3

p.G464R

c.1390G>C

1 paper

NM_006424.3

p.T458insFs

c.1372dupA

1 paper

NM_006424.3

p.L457fs

c.1369_1370fs

6 papers

NM_006424.3

p.Y455H

c.1363T>C

2 papers

NM_006424.3

p.S484*

c.1451C>A

2 papers

NM_006424.3

p.S484*

c.1451C>G

1 paper

NM_006424.3

p.L485_Q486delins

c.1455_1456delinsTT

8 papers

NM_006424.3

p.Q486*

c.1456C>T