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.E248D

c.744A>C

Surrounding Variants

1 paper

NM_003047.5

p.E248D

c.744A>T

1 paper

NM_003047.5

p.E248Q

c.742G>C

1 paper

NM_003047.5

p.E247D

c.741G>T

1 paper

NM_003047.5

p.E247D

c.741G>C

1 paper

NM_003047.5

p.E247Q

c.739G>C

1 paper

NM_003047.5

p.H250L

c.749A>T

1 paper

NM_003047.5

p.F246C

c.737T>G

1 paper

NM_003047.5

p.F246I

c.736T>A

1 paper

NM_003047.5

p.N252D

c.754A>G

1 paper

NM_003047.5

p.E253A

c.758A>C

1 paper

NM_003047.5

p.V242F

c.724G>T

1 paper

NM_003047.5

p.I257F

c.769A>T