Varaico: Literature-Extracted Genetic Variants

SLC34A3

196 papers

RefSeq Summary

This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal b...

Pfam Domains

Na_Pi_cotransaa 85–229UCSCNa+/Pi-cotransporter

Na_Pi_cotransaa 373–528UCSCNa+/Pi-cotransporter

Gene Aliases

HGNC Name

solute carrier family 34 member 3

HGNC Alias Symbols

NPTIIc; FLJ38680; NaPi-2c; NPT2C

Papers

RefSeq ID

Protein change

DNA change

1–12 of 278 variants

33 papers

NM_001177316.2

p.S192L

c.575C>T

18 papers

NM_001177316.2

p.S138F

c.413C>T

17 papers

NM_001177316.2

p.A76delFs

c.228delC

16 papers

NM_001177316.2

p.G196R

c.586G>A

16 papers

NM_001177316.2

p.G196R

c.586G>C

12 papers

NM_001177316.2

p.R468W

c.1402C>T

10 papers

NM_001177316.2

p.Q252Q

c.756G>A

10 papers

NM_001177316.2

p.L527del1

c.1579_1581delCTC

9 papers

NM_001177316.2

p.T137M

c.410C>T

9 papers

NM_001177316.2

p.R353L

c.1058G>T

8 papers

NM_001177316.2

p.R67H

c.200G>A

7 papers

NM_001177316.2

p.L150Splc

c.448+1G>A