Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.R500*

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
12 papers
NM_001042537.2
p.R500*
c.1498C>T
NM_006359.3
p.R468*
c.1402C>T
NM_001379110.1
p.R448*
c.1342C>T
Surrounding Variants
2 papers
NM_006359.3
p.R468_D469delFs
c.1402_1405del4
3 papers
NM_001042537.2
p.T502_A503insFs
c.1505_1509dup5
1 paper
NM_001379110.1
p.T450S
c.1348A>T
3 papers
NM_006359.3
p.T472insFs
c.1414dupA
1 paper
NM_001042537.2
p.T504fs
c.1510_1511fs
1 paper
NM_001379110.1
p.A442_Q456del0
c.1325_1366del42
1 paper
NM_006359.3
p.A460_F463Fs
c.1380_1389delinsGTCTTGGGAAGACTFs
1 paper
NM_006359.3
p.A460_F463delins
c.1380_1389delinsGTCTTGGGAAGAC
2 papers
NM_006359.3
p.M477_T481del5
c.1429_1442del15
2 papers
NM_001042537.2
p.G491D
c.1472G>A
1 paper
NM_001379110.1
p.R438S
c.1312C>A
2 papers
NM_001042537.2
p.G488_L489insFs
c.1464_1465insT
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