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

5 papers

NM_003047.5

p.D267E

c.801C>A

Surrounding Variants

5 papers

NM_003047.5

p.D267E

c.801C>G

1 paper

NM_003047.5

p.D267A

c.800A>C

1 paper

NM_003047.5

p.D267Y

c.799G>T

5 papers

NM_003047.5

p.D267N

c.799G>A

1 paper

NM_003047.5

p.V269A

c.806T>C

1 paper

NM_003047.5

p.N266D

c.796A>G

4 papers

NM_003047.5

p.N266H

c.796A>C

1 paper

NM_003047.5

p.L265L

c.795C>A

1 paper

NM_003047.5

p.T270A

c.808A>G

1 paper

NM_003047.5

p.L264F

c.792G>T

1 paper

NM_003047.5

p.L264F

c.792G>C

1 paper

NM_003047.5

p.L264V

c.790T>G