Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.F428_H430Fs

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.F428_H430Fs
c.1284_1290delinsGTCTTGGGAAGAGCTFs
Surrounding Variants
1 paper
NM_006359.3
p.M453del1
c.1357_1359delATG
3 papers
NM_001042537.2
p.G477_Q481del5
c.1429_1442del15
1 paper
NM_001379110.1
p.M433_F434delFs
c.1299_1300delGT
1 paper
NM_001379110.1
p.F434fs
c.1300_1301fs
1 paper
NM_006359.3
p.S442delFs
c.1325_1326delGT
2 papers
NM_001042537.2
p.G488Splc
c.1462+1G>C
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.G471G
c.1413T>A
6 papers
NM_001042537.2
p.R472insFs
c.1414dupA
1 paper
NM_001379110.1
p.G419C
c.1255G>T
1 paper
NM_001042537.2
p.L470L
c.1410G>A
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