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.D797N

c.2389G>A

Surrounding Variants

1 paper

NM_003047.5

p.P802L

c.2405C>T

1 paper

NM_003047.5

p.E803Q

c.2407G>C

1 paper

NM_003047.5

p.S788P

c.2362T>C

1 paper

NM_003047.5

p.E806K

c.2416G>A

1 paper

NM_003047.5

p.S785T

c.2354G>C

1 paper

NM_003047.5

p.P809L

c.2426C>T

1 paper

NM_003047.5

p.D784A

c.2351A>C

1 paper

NM_003047.5

p.P782A

c.2344C>G

1 paper

NM_003047.5

p.P812L

c.2435C>T

1 paper

NM_003047.5

p.P812H

c.2435C>A

2 papers

NM_003047.5

p.A781V

c.2342C>T

1 paper

NM_003047.5

p.T779S

c.2336C>G