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

1 paper

NM_003048.6

p.G127G

c.381T>A

Surrounding Variants

1 paper

NM_003048.6

p.I125I

c.375T>C

2 papers

NM_003048.6

p.L143F

c.429G>C

2 papers

NM_003048.6

p.L143F

c.429G>T

1 paper

NM_003048.6

p.Y144F

c.431A>T

1 paper

NM_003048.6

p.G154S

c.460G>A

1 paper

NM_003048.6

p.Y155C

c.464A>G

1 paper

NM_003048.6

p.R160H

c.479G>A

1 paper

NM_003048.6

p.F162S

c.485T>C

1 paper

NM_003048.6

p.I169S

c.506T>G

1 paper

NM_003048.6

p.W171*

c.513G>A

1 paper

NM_003048.6

p.I194M

c.582C>G

1 paper

NM_003048.6

p.D201N

c.601G>A