Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A3
Variant:p.R650G

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.R650G
c.1948C>G
Surrounding Variants
1 paper
NM_004174.4
p.R650P
c.1949G>C
1 paper
NM_004174.4
p.I652V
c.1954A>G
1 paper
NM_004174.4
p.K647E
c.1939A>G
1 paper
NM_004174.4
p.D645N
c.1933G>A
1 paper
NM_004174.4
p.T643M
c.1928C>T
1 paper
NM_004174.4
p.T641M
c.1922C>T
1 paper
NM_004174.4
p.R660H
c.1979G>A
1 paper
NM_004174.4
p.H638D
c.1912C>G
1 paper
NM_004174.4
p.S663A
c.1987T>G
1 paper
NM_004174.4
p.Y631C
c.1892A>G
1 paper
NM_004174.4
p.K668_L669Fs
c.2002_2006delinsAGAFs
1 paper
NM_004174.4
p.L671I
c.2011C>A
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