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.D226A

c.677A>C

Surrounding Variants

1 paper

NM_003047.5

p.D226N

c.676G>A

1 paper

NM_003047.5

p.N227D

c.679A>G

1 paper

NM_003047.5

p.G223C

c.667G>T

1 paper

NM_003047.5

p.F230C

c.689T>G

1 paper

NM_003047.5

p.G231C

c.691G>T

1 paper

NM_003047.5

p.G231S

c.691G>A

1 paper

NM_003047.5

p.S232C

c.694A>T

1 paper

NM_003047.5

p.Q218Q

c.654G>A

1 paper

NM_003047.5

p.S235A

c.703T>G

1 paper

NM_003047.5

p.E217A

c.650A>C

1 paper

NM_003047.5

p.E217Q

c.649G>C

1 paper

NM_003047.5

p.A236V

c.707C>T