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

1–12 of 79 variants

4 papers

NM_003048.6

p.R806Q

c.2417G>A

3 papers

NM_003048.6

p.T749fs

c.2245_2246fs

3 papers

NM_003048.6

p.D771N

c.2311G>A

2 papers

NM_003048.6

p.S9S

c.27C>T

2 papers

NM_003048.6

p.L143F

c.429G>C

2 papers

NM_003048.6

p.L143F

c.429G>T

2 papers

NM_003048.6

p.D690Splc

c.2069-3T>C

2 papers

NM_003048.6

p.T746insFs

c.2236_2237insC

2 papers

NM_003048.6

p.T746fs

c.2236_2237fs

1 paper

NM_003048.6

p.G5S

c.13G>A

1 paper

NM_003048.6

p.G5R

c.13G>C

1 paper

NM_003048.6

p.R8M

c.23G>T