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

1–12 of 302 variants

6 papers

NM_003047.5

p.G305R

c.913G>C

6 papers

NM_003047.5

p.G305R

c.913G>A

5 papers

NM_003047.5

p.F162S

c.485T>C

5 papers

NM_003047.5

p.G174S

c.520G>A

5 papers

NM_003047.5

p.D267N

c.799G>A

5 papers

NM_003047.5

p.D267E

c.801C>G

5 papers

NM_003047.5

p.D267E

c.801C>A

4 papers

NM_003047.5

p.L163F

c.487C>T

4 papers

NM_003047.5

p.N266H

c.796A>C

4 papers

NM_003047.5

p.I451L

c.1351A>C

4 papers

NM_003047.5

p.S703A

c.2107T>G

4 papers

NM_003047.5

p.E735E

c.2205A>G