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

3 papers

NM_003047.5

p.D172E

c.516T>G

Surrounding Variants

3 papers

NM_003047.5

p.D172E

c.516T>A

2 papers

NM_003047.5

p.D172N

c.514G>A

1 paper

NM_003047.5

p.G174C

c.520G>T

5 papers

NM_003047.5

p.G174S

c.520G>A

1 paper

NM_003047.5

p.G174A

c.521G>C

1 paper

NM_003047.5

p.G174D

c.521G>A

1 paper

NM_003047.5

p.I170T

c.509T>C

1 paper

NM_003047.5

p.Y175C

c.524A>G

1 paper

NM_003047.5

p.I169S

c.506T>G

1 paper

NM_003047.5

p.F176C

c.527T>G

1 paper

NM_003047.5

p.P168A

c.502C>G

1 paper

NM_003047.5

p.L177L

c.531G>C