Varaico: Literature-Extracted Genetic Variants

Gene:SLC9B1
Variant:p.L379P

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
2 papers
NM_139173.4
p.L379P
c.1136T>C
Surrounding Variants
1 paper
NM_139173.4
p.V372L
c.1114G>C
3 papers
NM_139173.4
p.G399Splc
c.1196-6T>C
1 paper
NM_139173.4
p.L405L
c.1215A>G
1 paper
NM_139173.4
p.L405L
c.1215A>C
16 papers
NM_139173.4
p.R412*
c.1234C>T
11 papers
NM_139173.4
p.T416A
c.1246A>G
11 papers
NM_139173.4
p.K440*
c.1318A>T
1 paper
NM_139173.4
p.F307Y
c.920T>A
5 papers
NM_139173.4
p.R305*
c.913C>T
1 paper
NM_139173.4
p.F303delFs
c.909delA
1 paper
NM_139173.4
p.F303fs
c.907_908fs
3 papers
NM_139173.4
p.L294R
c.881T>G
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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."