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.Y342C

c.1025A>G

Surrounding Variants

1 paper

NM_003047.5

p.A345V

c.1034C>T

1 paper

NM_003047.5

p.Y339C

c.1016A>G

1 paper

NM_003047.5

p.E346Q

c.1036G>C

1 paper

NM_003047.5

p.E346D

c.1038G>T

1 paper

NM_003047.5

p.E346D

c.1038G>C

1 paper

NM_003047.5

p.F348C

c.1043T>G

2 papers

NM_003047.5

p.L336F

c.1006C>T

2 papers

NM_003047.5

p.H349Y

c.1045C>T

1 paper

NM_003047.5

p.H349N

c.1045C>A

2 papers

NM_003047.5

p.H349L

c.1046A>T

1 paper

NM_003047.5

p.H349Q

c.1047C>G

1 paper

NM_003047.5

p.H349Q

c.1047C>A