Varaico: Literature-Extracted Genetic Variants

Gene:SLC9B1
Variant:p.L294R

SLC9B1

73 papers

RefSeq Summary

The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this ge...

Pfam Domains

Na_H_Exchangeraa 98–491UCSCSodium/hydrogen exchanger, transmembrane

Gene Aliases

HGNC Name

solute carrier family 9 member B1

HGNC Previous Symbol

NHEDC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_139173.4
p.L294R
c.881T>G
Surrounding Variants
1 paper
NM_139173.4
p.I292I
c.876T>A
4 papers
NM_139173.4
p.I292F
c.874A>T
1 paper
NM_139173.4
p.C291_I292delins
c.873_874delinsCT
3 papers
NM_139173.4
p.V290I
c.868G>A
4 papers
NM_139173.4
p.I287V
c.859A>G
1 paper
NM_139173.4
p.A285A
c.855C>A
1 paper
NM_139173.4
p.F303fs
c.907_908fs
1 paper
NM_139173.4
p.F303delFs
c.909delA
5 papers
NM_139173.4
p.R305*
c.913C>T
1 paper
NM_139173.4
p.F307Y
c.920T>A
4 papers
NM_139173.4
p.I279M
c.837A>G
1 paper
NM_139173.4
p.V372L
c.1114G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."