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.M580I

c.1740G>C

Surrounding Variants

1 paper

NM_003047.5

p.M580I

c.1740G>T

1 paper

NM_003047.5

p.M580I

c.1740G>A

1 paper

NM_003047.5

p.E566A

c.1697A>C

1 paper

NM_003047.5

p.E566K

c.1696G>A

1 paper

NM_003047.5

p.C561S

c.1682G>C

1 paper

NM_003047.5

p.C561G

c.1681T>G

1 paper

NM_003047.5

p.C561S

c.1681T>A

1 paper

NM_003047.5

p.V601I

c.1801G>A

1 paper

NM_003047.5

p.S602C

c.1805C>G

3 papers

NM_003047.5

p.T603del1

c.1807_1808delGGT

1 paper

NM_003047.5

p.S605T

c.1813T>A

1 paper

NM_003047.5

p.G542S

c.1624G>A