Varaico: Literature-Extracted Genetic Variants

SLC9A1

204 papers

RefSeq Summary

This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein ...

Pfam Domains

Na_H_Exchangeraa 109–505UCSCSodium/hydrogen exchanger, transmembrane

NEXCaM_BDaa 599–700UCSCRegulatory region of Na+/H+ exchanger NHE binds to calmodulin

Gene Aliases

HGNC Name

solute carrier family 9 member A1

HGNC Previous Symbols

APNH; NHE1; NHE-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003047.5

p.R440C

c.1318C>T

Surrounding Variants

1 paper

NM_003047.5

p.R440L

c.1319G>T

1 paper

NM_003047.5

p.R440H

c.1319G>A

1 paper

NM_003047.5

p.F439C

c.1316T>G

2 papers

NM_003047.5

p.K438E

c.1312A>G

1 paper

NM_003047.5

p.V442A

c.1325T>C

1 paper

NM_003047.5

p.K443E

c.1327A>G

1 paper

NM_003047.5

p.T445A

c.1333A>G

1 paper

NM_003047.5

p.K447E

c.1339A>G

1 paper

NM_003047.5

p.T433A

c.1297A>G

1 paper

NM_003047.5

p.G431A

c.1292G>C

1 paper

NM_003047.5

p.F450C

c.1349T>G

4 papers

NM_003047.5

p.I451L

c.1351A>C