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.L264V

c.790T>G

Surrounding Variants

1 paper

NM_003047.5

p.L264F

c.792G>T

1 paper

NM_003047.5

p.L264F

c.792G>C

2 papers

NM_003047.5

p.S263A

c.787T>G

2 papers

NM_003047.5

p.E262D

c.786G>T

2 papers

NM_003047.5

p.E262D

c.786G>C

1 paper

NM_003047.5

p.L265L

c.795C>A

1 paper

NM_003047.5

p.E262A

c.785A>C

2 papers

NM_003047.5

p.E262Q

c.784G>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.G261A

c.782G>C

1 paper

NM_003047.5

p.G261E

c.782G>A