Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A3
Variant:p.C799R

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
12 papers
NM_004174.4
p.C799R
c.2395T>C
Surrounding Variants
1 paper
NM_004174.4
p.R800H
c.2399G>A
1 paper
NM_004174.4
p.R800R
c.2400C>A
1 paper
NM_004174.4
p.P792S
c.2374C>T
1 paper
NM_004174.4
p.Q790H
c.2370G>T
1 paper
NM_004174.4
p.Q790H
c.2370G>C
1 paper
NM_004174.4
p.P820S
c.2458C>T
1 paper
NM_004174.4
p.P820L
c.2459C>T
1 paper
NM_004174.4
p.E821K
c.2461G>A
1 paper
NM_004174.4
p.E821E
c.2463G>A
1 paper
NM_004174.4
p.L775L
c.2325G>A
1 paper
NM_004174.4
p.P829S
c.2485C>T
1 paper
NM_004174.4
p.P829L
c.2486C>T
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