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

4 papers

NM_003047.5

p.S703A

c.2107T>G

Surrounding Variants

2 papers

NM_003047.5

p.S703P

c.2107T>C

1 paper

NM_003047.5

p.M696V

c.2086A>G

2 papers

NM_003047.5

p.S693A

c.2077T>G

1 paper

NM_003047.5

p.V686A

c.2057T>C

2 papers

NM_003047.5

p.N682K

c.2046C>G

2 papers

NM_003047.5

p.N682K

c.2046C>A

1 paper

NM_003047.5

p.N681D

c.2041A>G

1 paper

NM_003047.5

p.D657A

c.1970A>C

1 paper

NM_003047.5

p.D657Y

c.1969G>T

1 paper

NM_003047.5

p.P715A

c.2143C>G

1 paper

NM_003047.5

p.P715L

c.2144C>T

1 paper

NM_003047.5

p.T653fs

c.1957_1958fs