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.L298fs

c.892_893fs

Surrounding Variants

3 papers

NM_006424.3

p.L298_V299delFs

c.893_897del5

1 paper

NM_006424.3

p.V299L

c.895G>C

1 paper

NM_006424.3

p.V299_K300delins

c.896_899delinsG

1 paper

NM_006424.3

p.I301_W302insAA

c.901_905ins6

2 papers

NM_006424.3

p.W302*

c.905G>A

1 paper

NM_006424.3

p.K294_S297delFs

c.880_889del10

4 papers

NM_006424.3

p.W302*

c.906G>A

12 papers

NM_006424.3

p.K304*

c.910A>T

1 paper

NM_006424.3

p.E291delins

c.871delinsAAGTTATCGCTTTTTCATC

1 paper

NM_006424.3

p.I286_E291Fs

c.857_871delinsAAGTTATCGCTTTTTCATCFs

1 paper

NM_006424.3

p.I286fs

c.856_857fs

3 papers

NM_006424.3

p.K309_T310Splc

c.927+1G>A