Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.G419C

SLC9A6

130 papers

RefSeq Summary

This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal...

Pfam Domains

Na_H_Exchangeraa 27–451UCSCSodium/hydrogen exchanger, transmembrane

Gene Aliases

HGNC Name

solute carrier family 9 member A6

HGNC Alias Symbols

NHE6; KIAA0267; NHE-6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001379110.1
p.G419C
c.1255G>T
Surrounding Variants
1 paper
NM_001042537.2
p.L470L
c.1410G>A
1 paper
NM_001042537.2
p.G471G
c.1413T>A
6 papers
NM_001042537.2
p.R472insFs
c.1414dupA
1 paper
NM_001042537.2
p.R472fs
c.1414_1415fs
3 papers
NM_001042537.2
p.R472fs
c.1414_1415fs
NM_006359.3
p.R440fs
c.1318_1319fs
1 paper
NM_001042537.2
p.L470L
c.1408T>C
1 paper
NM_001042537.2
p.N469N
c.1407T>C
1 paper
NM_001042537.2
p.L468L
c.1404T>A
1 paper
NM_006359.3
p.S442delFs
c.1325_1326delGT
1 paper
NM_001379110.1
p.L416fs
c.1246_1247fs
2 papers
NM_001042537.2
p.L468F
c.1402C>T
3 papers
NM_006359.3
p.L436fs
c.1306_1307fs
NM_001042537.2
p.L468fs
c.1402_1403fs
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