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.Q11_P12delins

c.33_34delinsCT

Surrounding Variants

1 paper

NM_006424.3

p.W4C

c.12G>C

1 paper

NM_006424.3

p.P3T

c.7C>A

1 paper

NM_006424.3

p.A2P

c.4G>C

1 paper

NM_006424.3

p.M1_A2insFs

c.3_4insA

1 paper

NM_006424.3

p.G23V

c.68G>T

1 paper

NM_006424.3

p.T38Splc

c.112+10G>A

6 papers

NM_006424.3

p.T38delFs

c.114delA

1 paper

NM_006424.3

p.D39fs

c.115_116fs

1 paper

NM_006424.3

p.D39A

c.116A>C

1 paper

NM_006424.3

p.V45A

c.134T>C

1 paper

NM_006424.3

p.L51L

c.153G>A

1 paper

NM_006424.3

p.Y54*

c.162C>A