Varaico: Literature-Extracted Genetic Variants

SLC9A2

74 papers

RefSeq Summary

This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions ...

Pfam Domains

Na_H_Exchangeraa 88–485UCSCSodium/hydrogen exchanger, transmembrane

NEXCaM_BDaa 575–684UCSCRegulatory region of Na+/H+ exchanger NHE binds to calmodulin

Gene Aliases

HGNC Name

solute carrier family 9 member A2

HGNC Previous Symbol

NHE2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003048.6

p.T746fs

c.2236_2237fs

Surrounding Variants

2 papers

NM_003048.6

p.T746insFs

c.2236_2237insC

3 papers

NM_003048.6

p.T749fs

c.2245_2246fs

1 paper

NM_003048.6

p.R741L

c.2222G>T

1 paper

NM_003048.6

p.Y727*

c.2181T>A

1 paper

NM_003048.6

p.Y727*

c.2181T>G

1 paper

NM_003048.6

p.Q725fs

c.2173_2174fs

3 papers

NM_003048.6

p.D771N

c.2311G>A

1 paper

NM_003048.6

p.G774A

c.2321G>C

1 paper

NM_003048.6

p.F714L

c.2142C>A

1 paper

NM_003048.6

p.F714L

c.2142C>G

1 paper

NM_003048.6

p.F714L

c.2140T>C

1 paper

NM_003048.6

p.P709H

c.2126C>A