Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.W570*

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
7 papers
NM_001042537.2
p.W570*
c.1709G>A
NM_006359.3
p.W538*
c.1613G>A
Surrounding Variants
8 papers
NM_001042537.2
p.W570*
c.1710G>A
NM_006359.3
p.W538*
c.1614G>A
1 paper
NM_001379110.1
p.M547I
c.1641G>A
2 papers
NM_001042537.2
p.R568Q
c.1703G>A
3 papers
NM_006359.3
p.N544Splc
c.1631+1G>A
1 paper
NM_001379110.1
p.T536A
c.1606A>G
1 paper
NM_001379110.1
p.R535K
c.1604G>A
1 paper
NM_006359.3
p.R524fs
c.1570_1571fs
1 paper
NM_006359.3
p.E523_R525delFs
c.1569_1573del5
1 paper
NM_001379110.1
p.N532delFs
c.1596delT
2 papers
NM_001379110.1
p.N532_K538delFs
c.1595_1613del19
2 papers
NM_001177651.2
p.P500S
c.1498C>T
1 paper
NM_001379110.1
p.G528S
c.1582G>A
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