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

1–12 of 241 variants

12 papers

NM_006424.3

p.K304*

c.910A>T

9 papers

NM_006424.3

p.G106R

c.316G>A

9 papers

NM_006424.3

p.G106R

c.316G>C

8 papers

NM_006424.3

p.Q486*

c.1456C>T

7 papers

NM_006424.3

p.L443delFs

c.1328delT

6 papers

NM_006424.3

p.T38delFs

c.114delA

6 papers

NM_006424.3

p.Q76*

c.226C>T

6 papers

NM_006424.3

p.T192K

c.575C>A

6 papers

NM_006424.3

p.C350Splc

c.1048+1G>A

6 papers

NM_006424.3

p.W413*

c.1238G>A

6 papers

NM_006424.3

p.V448delFs

c.1342delG

6 papers

NM_006424.3

p.Y455H

c.1363T>C