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.G44D

c.131G>A

Surrounding Variants

1 paper

NM_003048.6

p.S48C

c.142A>T

1 paper

NM_003048.6

p.L37M

c.109C>A

1 paper

NM_003048.6

p.L36M

c.106T>A

1 paper

NM_003048.6

p.T60T

c.180G>A

1 paper

NM_003048.6

p.F63Y

c.188T>A

2 papers

NM_003048.6

p.S9S

c.27C>T

1 paper

NM_003048.6

p.R8M

c.23G>T

1 paper

NM_003048.6

p.G5S

c.13G>A

1 paper

NM_003048.6

p.G5R

c.13G>C