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.L141M

c.421C>A

Surrounding Variants

1 paper

NM_003047.5

p.G139A

c.416G>C

1 paper

NM_003047.5

p.G144D

c.431G>A

1 paper

NM_003047.5

p.G148D

c.443G>A

1 paper

NM_003047.5

p.C133R

c.397T>C

2 papers

NM_003047.5

p.E131D

c.393G>T

2 papers

NM_003047.5

p.E131D

c.393G>C

2 papers

NM_003047.5

p.E131Q

c.391G>C

1 paper

NM_003047.5

p.E131K

c.391G>A

1 paper

NM_003047.5

p.P153S

c.457C>T

1 paper

NM_003047.5

p.P153A

c.457C>G

1 paper

NM_003047.5

p.P154A

c.460C>G

1 paper

NM_003047.5

p.F155C

c.464T>G