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.T653A

c.1957A>G

Surrounding Variants

1 paper

NM_003047.5

p.T653fs

c.1957_1958fs

1 paper

NM_003047.5

p.T653delFs

c.1957_1958delGT

1 paper

NM_003047.5

p.D657Y

c.1969G>T

1 paper

NM_003047.5

p.D657A

c.1970A>C

2 papers

NM_003047.5

p.S648A

c.1942T>G

1 paper

NM_003047.5

p.R645_L646Splc

c.1936-4A>G

2 papers

NM_003047.5

p.R645W

c.1933C>T

1 paper

NM_003047.5

p.Q644E

c.1930C>G

2 papers

NM_003047.5

p.E617K

c.1849G>A

1 paper

NM_003047.5

p.Q607Q

c.1821G>A

1 paper

NM_003047.5

p.N681D

c.2041A>G

2 papers

NM_003047.5

p.N682K

c.2046C>G