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.V237L

c.709G>T

Surrounding Variants

1 paper

NM_003047.5

p.V237L

c.709G>C

1 paper

NM_003047.5

p.A236V

c.707C>T

2 papers

NM_003047.5

p.D238N

c.712G>A

1 paper

NM_003047.5

p.D238A

c.713A>C

1 paper

NM_003047.5

p.S235A

c.703T>G

1 paper

NM_003047.5

p.P239S

c.715C>T

2 papers

NM_003047.5

p.P239A

c.715C>G

1 paper

NM_003047.5

p.V242F

c.724G>T

1 paper

NM_003047.5

p.S232C

c.694A>T

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.F230C

c.689T>G