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.L163P

c.488T>C

Surrounding Variants

1 paper

NM_003047.5

p.L163R

c.488T>G

4 papers

NM_003047.5

p.L163F

c.487C>T

1 paper

NM_003047.5

p.F164C

c.491T>G

1 paper

NM_003047.5

p.F162C

c.485T>G

5 papers

NM_003047.5

p.F162S

c.485T>C

1 paper

NM_003047.5

p.F161L

c.483C>G

1 paper

NM_003047.5

p.F161L

c.483C>A

2 papers

NM_003047.5

p.F161C

c.482T>G

1 paper

NM_003047.5

p.F161L

c.481T>C

3 papers

NM_003047.5

p.V160I

c.478G>A

1 paper

NM_003047.5

p.P167A

c.499C>G

1 paper

NM_003047.5

p.D159E

c.477C>G