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

7 papers

NM_006424.3

p.L443delFs

c.1328delT

Surrounding Variants

1 paper

NM_006424.3

p.L443fs

c.1327_1328fs

1 paper

NM_006424.3

p.L443fs

c.1327_1328fs

4 papers

NM_006424.3

p.L443delFs

c.1327delC

5 papers

NM_006424.3

p.G445Splc

c.1333+1G>A

1 paper

NM_006424.3

p.V430I

c.1288G>A

1 paper

NM_006424.3

p.F428L

c.1284C>A

1 paper

NM_006424.3

p.F428L

c.1284C>G

1 paper

NM_006424.3

p.F428L

c.1282T>C

1 paper

NM_006424.3

p.G425V

c.1274G>T

1 paper

NM_006424.3

p.G423G

c.1269G>A

3 papers

NM_006424.3

p.G423R

c.1267G>A

3 papers

NM_006424.3

p.G423R

c.1267G>C