Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A3
Variant:p.P574L

SLC9A3

176 papers

RefSeq Summary

The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secre...

Pfam Domains

Na_H_Exchangeraa 62–462UCSCSodium/hydrogen exchanger, transmembrane

Gene Aliases

HGNC Name

solute carrier family 9 member A3

HGNC Previous Symbol

NHE3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004174.4
p.P574L
c.1721C>T
Surrounding Variants
1 paper
NM_004174.4
p.T573K
c.1718C>A
2 papers
NM_004174.4
p.A581S
c.1741G>T
1 paper
NM_004174.4
p.V567A
c.1700T>C
3 papers
NM_004174.4
p.V567M
c.1699G>A
1 paper
NM_004174.4
p.S582fs
c.1744_1745fs
1 paper
NM_004174.4
p.D565N
c.1693G>A
1 paper
NM_004174.4
p.R553C
c.1657C>T
1 paper
NM_004174.4
p.V594A
c.1781T>C
2 papers
NM_004174.4
p.R604Q
c.1811G>A
1 paper
NM_004174.4
p.R605W
c.1813C>T
2 papers
NM_004174.4
p.R605Q
c.1814G>A
1 paper
NM_004174.4
p.R606W
c.1816C>T
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