Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.G383D

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
8 papers
NM_001042537.2
p.G383D
c.1148G>A
Surrounding Variants
1 paper
NM_001379110.1
p.G331Splc
c.992-3T>C
1 paper
NM_001379110.1
p.V335_L336del2
c.1003_1007del6
1 paper
NM_001379110.1
p.C338_I340del0
c.1012_1020del9
1 paper
NM_001379110.1
p.C338_Q342Fs
c.1013_1025delinsTCAGCCFs
1 paper
NM_001042537.2
p.T393_Q394del1
c.1178_1180delCAC
1 paper
NM_001379110.1
p.T341I
c.1022C>T
1 paper
NM_001379110.1
p.S351_T352insG
c.1051_1055ins3
3 papers
NM_001042537.2
p.Q407*
c.1219C>T
NM_006359.3
p.Q375*
c.1123C>T
4 papers
NM_001042537.2
p.H408_R409delFs
c.1222_1226del5
3 papers
NM_001042537.2
p.H408fs
c.1222_1223fs
1 paper
NM_001379110.1
p.Q360_L361Splc
c.1080+17A>G
1 paper
NM_001379110.1
p.G331Splc
c.991+31C>A
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