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.H275H

c.825C>T

Surrounding Variants

1 paper

NM_003047.5

p.L276P

c.827T>C

1 paper

NM_003047.5

p.V272A

c.815T>C

1 paper

NM_003047.5

p.V271_V272Splc

c.814-5C>T

1 paper

NM_003047.5

p.G287S

c.859G>A

2 papers

NM_003047.5

p.I288fs

c.862_863fs

1 paper

NM_003047.5

p.I288delFs

c.862delT

2 papers

NM_003047.5

p.G294S

c.880G>A

6 papers

NM_003047.5

p.G305R

c.913G>C

6 papers

NM_003047.5

p.G305R

c.913G>A

2 papers

NM_003047.5

p.G313E

c.938G>A

1 paper

NM_003047.5

p.F318Y

c.953T>A

1 paper

NM_003047.5

p.R321*

c.961C>T