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.D116G

c.347A>G

Surrounding Variants

2 papers

NM_006424.3

p.I117V

c.349A>G

1 paper

NM_006424.3

p.L115M

c.343C>A

1 paper

NM_006424.3

p.S119_F122del0

c.355_366del12

1 paper

NM_006424.3

p.S120_A121insFs

c.360_361insT

1 paper

NM_006424.3

p.A121fs

c.361_362fs

1 paper

NM_006424.3

p.L108V

c.322C>G

9 papers

NM_006424.3

p.G106R

c.316G>A

9 papers

NM_006424.3

p.G106R

c.316G>C

1 paper

NM_006424.3

p.L103_L105delFs

c.309_313del5

1 paper

NM_006424.3

p.L103fs

c.307_308fs

1 paper

NM_006424.3

p.L101*

c.302T>A

1 paper

NM_006424.3

p.L101insFs

c.301_302insAA